1,045 Matching Annotations
  1. Mar 2021
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
    199
    1. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 102.88

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 20.71

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:59 CAID:CA196291 ClinVarID:186939
    2. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 16.6

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 4.35

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:58 CAID:CA395137855 ClinVarID:484186
    3. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 103.21

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.98

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:56 CAID:CA395137985
    4. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 108.27

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 16.12

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:55 CAID:CA279524947 ClinVarID:460996
    5. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 98.43

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 14.96

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:54 CAID:CA288478 ClinVarID:126740
    6. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 102.57

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 11.51

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:53 CAID:CA192169 ClinVarID:185518
    7. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 103.83

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 3.67

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:52 CAID:CA331796 ClinVarID:126738
    8. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 87.51

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 4.4

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:51 CAID:CA350039 ClinVarID:219647
    9. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 56.67

      AssayResultAssertion: Not reported

      ReplicateCount: 4

      StandardErrorMean: 12.4

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:50 CAID:CA339433 ClinVarID:216752
    10. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 85.13

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 15.04

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:48 CAID:CA395141224
    11. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 108.56

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 19.59

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:47 CAID:CA395141313
    12. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.42

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 0.01

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:46 CAID:CA279530867 ClinVarID:922719
    13. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 99.69

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 3.09

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:45 CAID:CA395141474
    14. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 12.35

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.48

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:44 CAID:CA251004 ClinVarID:126711 ValidationControl:Pathogenic
    15. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 14.79

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.81

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:42 CAID:CA10579934 ClinVarID:232977
    16. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 84.41

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 1.42

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:40 CAID:CA16620118 ClinVarID:420826
    17. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 25.09

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 3.48

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:39 CAID:CA294562 ClinVarID:126706 ValidationControl:Pathogenic
    18. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 97.37

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 5.14

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:38 CAID:CA151242 ClinVarID:126699 ValidationControl:Benign
    19. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 12.77

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 5.34

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:36 CAID:CA395144208
    20. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 78.91

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.86

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:35 CAID:CA210470 ClinVarID:128136
    21. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 8.41

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.95

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:34 CAID:CA195974 ClinVarID:186824
    22. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 24.31

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 5.23

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:33 CAID:CA7963465 ClinVarID:241553
    23. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 14.78

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 9.34

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:32 CAID:CA197176 ClinVarID:187262
    24. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 81.17

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 9.32

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:31 CAID:CA395144862
    25. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 91.11

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 17.74

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:30 CAID:CA151239 ClinVarID:126683
    26. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 26.39

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.11

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:29 CAID:CA395144928 ClinVarID:484164
    27. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 94.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 19.94

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:28 CAID:CA196017 ClinVarID:186840
    28. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 86.26

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 4.22

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:27 CAID:CA395145110
    29. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.73

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 2.25

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:26 CAID:CA395121845
    30. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 29.04

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.24

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:25 CAID:CA299663 ClinVarID:182741 ValidationControl:Pathogenic
    31. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 115.45

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.81

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:24 CAID:CA269551 ClinVarID:126670
    32. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 78.3

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.75

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:23 CAID:CA395122261
    33. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 86.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.96

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:22 CAID:CA151233 ClinVarID:126669 ValidationControl:Benign
    34. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 87.96

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 10.31

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:20 CAID:CA395125757 ClinVarID:530038
    35. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 78.2

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.31

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:19 CAID:CA10579985 ClinVarID:229718
    36. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 103.53

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.06

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:18 CAID:CA151230 ClinVarID:126630 ValidationControl:Benign
    37. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 19.46

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.75

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:17 CAID:CA161342 ClinVarID:134994 ValidationControl:Pathogenic
    38. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 64.92

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.7

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:16 CAID:CA7963653
    39. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 11.06

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 2.4

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:15 CAID:CA151229 ClinVarID:126623 ValidationControl:Pathogenic
    40. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 117.58

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.81

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:14 CAID:CA161327 ClinVarID:126613 ValidationControl:Benign
    41. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.68

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 0.32

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:13 CAID:CA251717 ClinVarID:1243 ValidationControl:Pathogenic
    42. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 23.96

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.6

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:12 CAID:CA250432 ClinVarID:126609 ValidationControl:Pathogenic
    43. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 120.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.09

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:11 CAID:CA163908 ClinVarID:126607
    44. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 74.18

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.49

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:10 CAID:CA185966 ClinVarID:182790 ValidationControl:Benign
    45. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 95.74

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 14.87

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:9 CAID:CA269492 ClinVarID:126600
    46. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 83.96

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 9.89

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:8 CAID:CA288398 ClinVarID:126595
    47. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 94.84

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 20.56

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:7 CAID:CA395139401
    48. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 17.43

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 5.19

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:6 CAID:CA16621924 ClinVarID:546043 ValidationControl:Pathogenic
    49. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 108.51

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 17.71

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:5 CAID:CA151222 ClinVarID:126594
    50. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 67.82

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 10.97

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:4 CAID:CA288386 ClinVarID:126590
    51. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 72.7

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 9.73

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:3 CAID:CA294407 ClinVarID:142468
    52. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 9.68

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 3.44

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:2 CAID:CA279502031 ClinVarID:657328
    53. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 115.71

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 3.09

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:1 CAID:CA151212 ClinVarID:126582 ValidationControl:Benign
    54. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 80.95

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 0.01

      StandardErrorMean: 0

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Supplementary Data 1” file: nucleotide reported as c.3191A>G.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:57 CAID:CA167348 ClinVarID:142079
    55. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 101.02

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.45

      StandardErrorMean: 3.86

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as T1064C.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:49 CAID:CA299747 ClinVarID:182773
    56. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 84.43

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.77

      StandardErrorMean: 1.96

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as L855P (based on matching values reported in the “Supplementary Data 1” file to values reported in the “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:21 CAID:CA494163316 ValidationControl:Benign
    57. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 15.58

      AssayResultAssertion: Abnormal

      ReplicateCount: 6

      StandardDeviation: 0.52

      StandardErrorMean: 0.37

      ControlType: Abnormal; empty vector (set 5)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
    58. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.93

      AssayResultAssertion: Abnormal

      ReplicateCount: 6

      StandardDeviation: 0.56

      StandardErrorMean: 0.39

      ControlType: Abnormal; empty vector (set 4)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
    59. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 8.71

      AssayResultAssertion: Abnormal

      ReplicateCount: 6

      StandardDeviation: 1.75

      StandardErrorMean: 1.24

      ControlType: Abnormal; empty vector (set 3)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
    60. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.11

      AssayResultAssertion: Abnormal

      ReplicateCount: 6

      StandardDeviation: 2.37

      StandardErrorMean: 1.68

      ControlType: Abnormal; empty vector (set 2)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
    61. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.83

      AssayResultAssertion: Abnormal

      ReplicateCount: 6

      StandardDeviation: 1.13

      StandardErrorMean: 0.8

      ControlType: Abnormal; empty vector (set 1)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
    62. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 100

      AssayResultAssertion: Normal

      ReplicateCount: 38

      StandardDeviation: 0

      StandardErrorMean: 0

      ControlType: Normal; wild type PALB2 cDNA

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 ValidationControl:WildType AssayControl:Normal
    63. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 97.16

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 1.32

      StandardErrorMean: 0.93

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:70 CAID:CA395139673 ClinVarID:567901
    64. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 30.35

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 3.64

      StandardErrorMean: 2.57

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:69 CAID:CA269654 ClinVarID:126774
    65. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 20.32

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.49

      StandardErrorMean: 0.35

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:68 CAID:CA10580054 ClinVarID:230588
    66. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.42

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.87

      StandardErrorMean: 2.03

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:67 CAID:CA299784 ClinVarID:182786 ValidationControl:Pathogenic
    67. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 91.47

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 8.63

      StandardErrorMean: 6.1

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:66 CAID:CA161333 ClinVarID:126761 ValidationControl:Benign
    68. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 100.19

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.64

      StandardErrorMean: 3.99

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:65 CAID:CA161315 ClinVarID:126758
    69. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.53

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.79

      StandardErrorMean: 1.97

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:64 CAID:CA658658444 ClinVarID:461007 ValidationControl:Pathogenic
    70. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 90.64

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 1.82

      StandardErrorMean: 1.29

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:63 CAID:CA163622 ClinVarID:126749 ValidationControl:Benign
    71. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 11.37

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.36

      StandardErrorMean: 0.26

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:62 CAID:CA151250 ClinVarID:1245 ValidationControl:Pathogenic
    72. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 70.86

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 17.18

      StandardErrorMean: 12.15

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:61 CAID:CA395137656
    73. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 81.81

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 7.45

      StandardErrorMean: 5.27

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:60 CAID:CA269625 ClinVarID:126747
    74. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 90.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 10.24

      StandardErrorMean: 7.24

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:59 CAID:CA196291 ClinVarID:186939
    75. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 13.45

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.2

      StandardErrorMean: 1.55

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:58 CAID:CA395137855 ClinVarID:484186
    76. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 92.2

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 19.94

      StandardErrorMean: 14.1

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:56 CAID:CA395137985
    77. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 90.79

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 6.38

      StandardErrorMean: 4.51

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:55 CAID:CA279524947 ClinVarID:460996
    78. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 69.83

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.94

      StandardErrorMean: 4.2

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:54 CAID:CA288478 ClinVarID:126740
    79. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 75.85

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 4.78

      StandardErrorMean: 3.38

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:53 CAID:CA192169 ClinVarID:185518
    80. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 94.33

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 9.99

      StandardErrorMean: 7.07

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:52 CAID:CA331796 ClinVarID:126738
    81. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 102.58

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.19

      StandardErrorMean: 1.55

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:51 CAID:CA350039 ClinVarID:219647
    82. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 21.79

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.84

      StandardErrorMean: 1.3

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:50 CAID:CA339433 ClinVarID:216752
    83. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 95.86

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 1.62

      StandardErrorMean: 1.15

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:48 CAID:CA395141224
    84. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 91.21

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 7.32

      StandardErrorMean: 5.18

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:47 CAID:CA395141313
    85. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.59

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.6

      StandardErrorMean: 0.43

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:46 CAID:CA279530867 ClinVarID:922719
    86. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 76.97

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 3.1

      StandardErrorMean: 2.19

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:45 CAID:CA395141474
    87. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.92

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.32

      StandardErrorMean: 0.94

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:44 CAID:CA251004 ClinVarID:126711 ValidationControl:Pathogenic
    88. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 38.85

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 3.05

      StandardErrorMean: 2.15

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:43 CAID:CA395142764 ClinVarID:484219
    89. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 16.89

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 3.12

      StandardErrorMean: 2.21

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:42 CAID:CA10579934 ClinVarID:232977
    90. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 17.62

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.76

      StandardErrorMean: 1.25

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:41 CAID:CA923726356
    91. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 86.41

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 17.62

      StandardErrorMean: 12.46

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:40 CAID:CA16620118 ClinVarID:420826
    92. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 6.16

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.27

      StandardErrorMean: 0.9

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:39 CAID:CA294562 ClinVarID:126706 ValidationControl:Pathogenic
    93. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 95.16

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardDeviation: 16.94

      StandardErrorMean: 9.78

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:38 CAID:CA151242 ClinVarID:126699 ValidationControl:Benign
    94. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.08

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.54

      StandardErrorMean: 0.38

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:37 CAID:CA164468 ClinVarID:1246 ValidationControl:Pathogenic
    95. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 14.01

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.53

      StandardErrorMean: 0.38

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:36 CAID:CA395144208
    96. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 74.49

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.29

      StandardErrorMean: 1.62

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:35 CAID:CA210470 ClinVarID:128136
    97. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 6.53

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.29

      StandardErrorMean: 0.21

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:34 CAID:CA195974 ClinVarID:186824
    98. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 30.27

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.04

      StandardErrorMean: 0.74

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:33 CAID:CA7963465 ClinVarID:241553
    99. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.63

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.51

      StandardErrorMean: 0.36

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:32 CAID:CA197176 ClinVarID:187262
    100. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 63.4

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.92

      StandardErrorMean: 4.18

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:31 CAID:CA395144862
    101. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 60.28

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardDeviation: 0.14

      StandardErrorMean: 0.1

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:30 CAID:CA151239 ClinVarID:126683
    102. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 17.35

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 6.21

      StandardErrorMean: 4.39

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:29 CAID:CA395144928 ClinVarID:484164
    103. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 106.23

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 14.57

      StandardErrorMean: 10.3

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:28 CAID:CA196017 ClinVarID:186840
    104. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 75.71

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 22.31

      StandardErrorMean: 15.77

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:27 CAID:CA395145110
    105. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 6.66

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.28

      StandardErrorMean: 0.2

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:26 CAID:CA395121845
    106. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 6.1

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.11

      StandardErrorMean: 1.49

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:25 CAID:CA299663 ClinVarID:182741 ValidationControl:Pathogenic
    107. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 84.07

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.47

      StandardErrorMean: 1.75

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:24 CAID:CA269551 ClinVarID:126670
    108. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 100.07

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 6.18

      StandardErrorMean: 4.37

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:23 CAID:CA395122261
    109. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 91.6

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 8.2

      StandardErrorMean: 5.8

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:22 CAID:CA151233 ClinVarID:126669 ValidationControl:Benign
    110. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 82.83

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 4.82

      StandardErrorMean: 3.41

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:20 CAID:CA395125757 ClinVarID:530038
    111. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 87.35

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 11.94

      StandardErrorMean: 8.44

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:19 CAID:CA10579985 ClinVarID:229718
    112. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 83.25

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.27

      StandardErrorMean: 3.73

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:18 CAID:CA151230 ClinVarID:126630 ValidationControl:Benign
    113. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.03

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.68

      StandardErrorMean: 1.9

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:17 CAID:CA161342 ClinVarID:134994 ValidationControl:Pathogenic
    114. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 77.45

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 6.2

      StandardErrorMean: 4.38

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:16 CAID:CA7963653
    115. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 9.92

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.93

      StandardErrorMean: 1.37

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:15 CAID:CA151229 ClinVarID:126623 ValidationControl:Pathogenic
    116. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 95.02

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 0.08

      StandardErrorMean: 0.06

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:14 CAID:CA161327 ClinVarID:126613 ValidationControl:Benign
    117. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.4

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 3.22

      StandardErrorMean: 2.28

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:13 CAID:CA251717 ClinVarID:1243 ValidationControl:Pathogenic
    118. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.75

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.59

      StandardErrorMean: 1.83

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:12 CAID:CA250432 ClinVarID:126609 ValidationControl:Pathogenic
    119. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 75.45

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 4.03

      StandardErrorMean: 2.85

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:11 CAID:CA163908 ClinVarID:126607
    120. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 98.55

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.74

      StandardErrorMean: 4.06

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:10 CAID:CA185966 ClinVarID:182790 ValidationControl:Benign
    121. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 62.31

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 11.49

      StandardErrorMean: 8.13

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:9 CAID:CA269492 ClinVarID:126600
    122. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 66.19

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 21.26

      StandardErrorMean: 15.03

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:8 CAID:CA288398 ClinVarID:126595
    123. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 105.41

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 9.45

      StandardErrorMean: 6.68

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:7 CAID:CA395139401
    124. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.82

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.31

      StandardErrorMean: 1.64

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:6 CAID:CA16621924 ClinVarID:546043 ValidationControl:Pathogenic
    125. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 92.32

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.26

      StandardErrorMean: 1.6

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:5 CAID:CA151222 ClinVarID:126594
    126. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 44.9

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 9.75

      StandardErrorMean: 6.89

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:4 CAID:CA288386 ClinVarID:126590
    127. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 97.61

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 0.97

      StandardErrorMean: 0.68

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:3 CAID:CA294407 ClinVarID:142468
    128. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 11.28

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.24

      StandardErrorMean: 0.87

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:2 CAID:CA279502031 ClinVarID:657328
    129. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 86.67

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.24

      StandardErrorMean: 1.58

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:1 CAID:CA151212 ClinVarID:126582 ValidationControl:Benign
    130. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3492G>T p.(W1164C)

      CGType:Variant CG:BulkAnnotation Variant:57 ClinVarID:142079 CAID:CA167348
    131. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3191A>G p.(Y1064C)

      CGType:Variant CG:BulkAnnotation Variant:49 ClinVarID:182773 CAID:CA299747
    132. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2574T>C p.(V858=)

      CGType:Variant CG:BulkAnnotation Variant:21 CAID:CA494163316
    133. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.92C>T p.(T31I)

      CGType:Variant CG:BulkAnnotation Variant:70 ClinVarID:567901 CAID:CA395139673
    134. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.83A>G p.(Y28C)

      CGType:Variant CG:BulkAnnotation Variant:69 ClinVarID:126774 CAID:CA269654
    135. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.71T>C p.(L24S)

      CGType:Variant CG:BulkAnnotation Variant:68 ClinVarID:230588 CAID:CA10580054
    136. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.688G>T p.(E230X)

      CGType:Variant CG:BulkAnnotation Variant:67 ClinVarID:182786 CAID:CA299784
    137. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.629C>T p.(P210L)

      CGType:Variant CG:BulkAnnotation Variant:66 ClinVarID:126761 CAID:CA161333
    138. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.53A>G p.(K18R)

      CGType:Variant CG:BulkAnnotation Variant:65 ClinVarID:126758 CAID:CA161315
    139. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.514_517delTCTG p.(S172fs)

      CGType:Variant CG:BulkAnnotation Variant:64 ClinVarID:461007 CAID:CA658658444
    140. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.400G>A p.(D134N)

      CGType:Variant CG:BulkAnnotation Variant:63 ClinVarID:126749 CAID:CA163622
    141. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3549C>G p.(Y1183X)

      CGType:Variant CG:BulkAnnotation Variant:62 ClinVarID:1245 CAID:CA151250
    142. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3548A>G p.(Y1183C)

      CGType:Variant CG:BulkAnnotation Variant:61 CAID:CA395137656
    143. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3539T>C p.(I1180T)

      CGType:Variant CG:BulkAnnotation Variant:60 ClinVarID:126747 CAID:CA269625
    144. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3520G>A p.(G1174R)

      CGType:Variant CG:BulkAnnotation Variant:59 ClinVarID:186939 CAID:CA196291
    145. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3515T>C p.(L1172P)

      CGType:Variant CG:BulkAnnotation Variant:58 ClinVarID:484186 CAID:CA395137855
    146. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3478T>C p.(S1160P)

      CGType:Variant CG:BulkAnnotation Variant:56 CAID:CA395137985
    147. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3476G>T p.(W1159L)

      CGType:Variant CG:BulkAnnotation Variant:55 ClinVarID:460996 CAID:CA279524947
    148. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3428T>A p.(L1143H)

      CGType:Variant CG:BulkAnnotation Variant:54 ClinVarID:126740 CAID:CA288478
    149. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3367G>A p.(V1123M)

      CGType:Variant CG:BulkAnnotation Variant:53 ClinVarID:185518 CAID:CA192169
    150. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3356T>C p.(L1119P)

      CGType:Variant CG:BulkAnnotation Variant:52 ClinVarID:126738 CAID:CA331796
    151. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3331C>G p.(P1111A)

      CGType:Variant CG:BulkAnnotation Variant:51 ClinVarID:219647 CAID:CA350039
    152. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3209T>C p.(L1070P)

      CGType:Variant CG:BulkAnnotation Variant:50 ClinVarID:216752 CAID:CA339433
    153. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3172T>C p.(S1058P)

      CGType:Variant CG:BulkAnnotation Variant:48 CAID:CA395141224
    154. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3152T>G p.(I1051S)

      CGType:Variant CG:BulkAnnotation Variant:47 CAID:CA395141313
    155. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3128G>A p.(G1043D)

      CGType:Variant CG:BulkAnnotation Variant:46 ClinVarID:922719 CAID:CA279530867
    156. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3119T>C p.(L1040S)

      CGType:Variant CG:BulkAnnotation Variant:45 CAID:CA395141474
    157. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3113G>A p.(W1038X)

      CGType:Variant CG:BulkAnnotation Variant:44 ClinVarID:126711 CAID:CA251004
    158. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3110T>C p.(I1037T)

      CGType:Variant CG:BulkAnnotation Variant:43 ClinVarID:484219 CAID:CA395142764
    159. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3089C>T p.(T1030I)

      CGType:Variant CG:BulkAnnotation Variant:42 ClinVarID:232977 CAID:CA10579934
    160. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3073_3074delinsCG p.(A1025R)

      CGType:Variant CG:BulkAnnotation Variant:41 CAID:CA923726356
    161. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3054G>T p.(E1018D)

      CGType:Variant CG:BulkAnnotation Variant:40 ClinVarID:420826 CAID:CA16620118
    162. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.3026delC p.(P1009Lfs)

      CGType:Variant CG:BulkAnnotation Variant:39 ClinVarID:126706 CAID:CA294562
    163. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2993G>A p.(G998E)

      CGType:Variant CG:BulkAnnotation Variant:38 ClinVarID:126699 CAID:CA151242
    164. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2962C>T p.(Q988X)

      CGType:Variant CG:BulkAnnotation Variant:37 ClinVarID:1246 CAID:CA164468
    165. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2915T>A p.(L972Q)

      CGType:Variant CG:BulkAnnotation Variant:36 CAID:CA395144208
    166. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2897T>C p.(I966T)

      CGType:Variant CG:BulkAnnotation Variant:35 ClinVarID:128136 CAID:CA210470
    167. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2882T>C p.(L961P)

      CGType:Variant CG:BulkAnnotation Variant:34 ClinVarID:186824 CAID:CA195974
    168. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2840T>C p.(L947S)

      CGType:Variant CG:BulkAnnotation Variant:33 ClinVarID:241553 CAID:CA7963465
    169. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2831T>A p.(I944N)

      CGType:Variant CG:BulkAnnotation Variant:32 ClinVarID:187262 CAID:CA197176
    170. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2819A>G p.(E940G)

      CGType:Variant CG:BulkAnnotation Variant:31 CAID:CA395144862
    171. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2816T>G p.(L939W)

      CGType:Variant CG:BulkAnnotation Variant:30 ClinVarID:126683 CAID:CA151239
    172. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2809G>A p.(G937R)

      CGType:Variant CG:BulkAnnotation Variant:29 ClinVarID:484164 CAID:CA395144928
    173. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2792T>G p.(L931R)

      CGType:Variant CG:BulkAnnotation Variant:28 ClinVarID:186840 CAID:CA196017
    174. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2780A>C p.(D927A)

      CGType:Variant CG:BulkAnnotation Variant:27 CAID:CA395145110
    175. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2734T>G p.(W912G)

      CGType:Variant CG:BulkAnnotation Variant:26 CAID:CA395121845
    176. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2642_2645dupGTTG p.(C882Wfs)

      CGType:Variant CG:BulkAnnotation Variant:25 ClinVarID:182741 CAID:CA299663
    177. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2612A>G p.(D871G)

      CGType:Variant CG:BulkAnnotation Variant:24 ClinVarID:126670 CAID:CA269551
    178. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2593T>C p.(S865P)

      CGType:Variant CG:BulkAnnotation Variant:23 CAID:CA395122261
    179. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2590C>T p.(P864S)

      CGType:Variant CG:BulkAnnotation Variant:22 ClinVarID:126669 CAID:CA151233
    180. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2120C>T p.(P707L)

      CGType:Variant CG:BulkAnnotation Variant:20 ClinVarID:530038 CAID:CA395125757
    181. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2117C>T p.(T706I)

      CGType:Variant CG:BulkAnnotation Variant:19 ClinVarID:229718 CAID:CA10579985
    182. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2014G>C p.(E672Q)

      CGType:Variant CG:BulkAnnotation Variant:18 ClinVarID:126630 CAID:CA151230
    183. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2006delA p.(E669Gfs)

      CGType:Variant CG:BulkAnnotation Variant:17 ClinVarID:134994 CAID:CA161342
    184. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.1865T>C p.(L622P)

      CGType:Variant CG:BulkAnnotation Variant:16 CAID:CA7963653
    185. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.172_175delTTGT p.(Q60Rfs)

      CGType:Variant CG:BulkAnnotation Variant:15 ClinVarID:126623 CAID:CA151229
    186. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.1676A>G p.(Q559R)

      CGType:Variant CG:BulkAnnotation Variant:14 ClinVarID:126613 CAID:CA161327
    187. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.1653T>A p.(Y551X)

      CGType:Variant CG:BulkAnnotation Variant:13 ClinVarID:1243 CAID:CA251717
    188. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.1592delT p.(L531Cfs)

      CGType:Variant CG:BulkAnnotation Variant:12 ClinVarID:126609 CAID:CA250432
    189. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.1544A>G p.(K515R)

      CGType:Variant CG:BulkAnnotation Variant:11 ClinVarID:126607 CAID:CA163908
    190. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.1492G>T p.(D498Y)

      CGType:Variant CG:BulkAnnotation Variant:10 ClinVarID:182790 CAID:CA185966
    191. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.13C>T p.(P5S)

      CGType:Variant CG:BulkAnnotation Variant:9 ClinVarID:126600 CAID:CA269492
    192. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.1250C>A p.(S417Y)

      CGType:Variant CG:BulkAnnotation Variant:8 ClinVarID:126595 CAID:CA288398
    193. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.124G>A p.(E42K)

      CGType:Variant CG:BulkAnnotation Variant:7 CAID:CA395139401
    194. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.1227_1231delTGTTA p.(Y409X)

      CGType:Variant CG:BulkAnnotation Variant:6 ClinVarID:546043 CAID:CA16621924
    195. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.1222T>C p.(Y408H)

      CGType:Variant CG:BulkAnnotation Variant:5 ClinVarID:126594 CAID:CA151222
    196. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.110G>A p.(R37H)

      CGType:Variant CG:BulkAnnotation Variant:4 ClinVarID:126590 CAID:CA288386
    197. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.10C>T p.(P4S)

      CGType:Variant CG:BulkAnnotation Variant:3 ClinVarID:142468 CAID:CA294407
    198. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.104T>C p.(L35P)

      CGType:Variant CG:BulkAnnotation Variant:2 ClinVarID:657328 CAID:CA279502031
    199. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.1010T>C p.(L337S)

      CGType:Variant CG:BulkAnnotation Variant:1 ClinVarID:126582 CAID:CA151212
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    ncbi.nlm.nih.gov/pmc/articles/PMC6876638/
  3. www.cell.com www.cell.com
    High-Throughput Reclassification of SCN5A Variants
    1
    1. shannon_mcnulty 18 Mar 2021
      Automated Patch ClampingCells were patch clamped with the SyncroPatch 384PE automated patch clamping device (Nanion). To prepare cells for patch clamping, cells were washed in PBS, treated with Accutase (Millipore-Sigma) for 3 min at 37°C, then recovered in CHO-S-serum free media (GIBCO). Cells were pelleted and resuspended in divalent-free reference solution (DVF) at ∼200,000–400,000 cells/mL. DVF contained (mM) NaCl 140, KCl 4, alpha-D(+)-glucose 5, HEPES 10 (pH 7.4) adjusted with NaOH. Cells were then added to a medium resistance (4–6 MΩ) 384-well recording chamber with 1 patch aperture per well (NPC-384, Nanion), which contained DVF and internal solution: CsCl 10, NaCl 10, CsF 110, EGTA 10, HEPES 10 (pH 7.2) adjusted with CsOH. Next, to enhance seal resistance, 50% of the DVF was exchanged with a calcium-containing seal enhancing solution: NaCl 80, NMDG 60, KCl 4, MgCl2 1, CaCl2 10, alpha-D(+)-glucose 5, HEPES 10 (pH 7.4) adjusted with HCl. The cells were washed three times in external recording solution: NaCl 80, NMDG 60, KCl 4, MgCl2 1, CaCl2 2, alpha-D(+)-glucose 5, HEPES 10 (pH 7.4) adjusted with HCl. Currents elicited in response to activation, inactivation, and recovery from inactivation protocols were then recorded (Figure S2). A late current measurement was captured every 5 s. After 1 min, 50% of the external solution was exchanged with external solution containing 200 μM tetracaine hydrochloride (Sigma; effective concentration 100 μM tetracaine). After tetracaine addition, late current measurements were obtained every 5 s for 1 additional minute. At least 10 cells expressing wild-type SCN5A were included for comparison in each SyncroPatch experiment (Figure 1), and at least 2 independent transfections and at least 10 replicate cells were studied per mutant. Recordings were performed at room temperature.We also conducted experiments to assess the effects of incubation at low temperature or mexiletine (a sodium channel blocker), interventions reported to increase cell surface expression of mistrafficked channels.27Clatot J. Ziyadeh-Isleem A. Maugenre S. Denjoy I. Liu H. Dilanian G. Hatem S.N. Deschênes I. Coulombe A. Guicheney P. Neyroud N. Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.Cardiovasc. Res. 2012; 96: 53-63Crossref PubMed Scopus (62) Google Scholar,  28Makiyama T. Akao M. Tsuji K. Doi T. Ohno S. Takenaka K. Kobori A. Ninomiya T. Yoshida H. Takano M. et al.High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.J. Am. Coll. Cardiol. 2005; 46: 2100-2106Crossref PubMed Scopus (99) Google Scholar,  29Pfahnl A.E. Viswanathan P.C. Weiss R. Shang L.L. Sanyal S. Shusterman V. Kornblit C. London B. Dudley Jr., S.C. A sodium channel pore mutation causing Brugada syndrome.Heart Rhythm. 2007; 4: 46-53Abstract Full Text Full Text PDF PubMed Scopus (49) Google Scholar,  30Valdivia C.R. Ackerman M.J. Tester D.J. Wada T. McCormack J. Ye B. Makielski J.C. A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine.Cardiovasc. Res. 2002; 55: 279-289Crossref PubMed Scopus (77) Google Scholar,  31Valdivia C.R. Tester D.J. Rok B.A. Porter C.B. Munger T.M. Jahangir A. Makielski J.C. Ackerman M.J. A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs.Cardiovasc. Res. 2004; 62: 53-62Crossref PubMed Scopus (106) Google Scholar For these experiments, cells stably expressing loss-of-function variants were generated as described above. The cells were incubated for 24 h at 30°C, or at 37°C with or without 500 μM mexiletine hydrochloride (Sigma), washed with HEK media, and were patch clamped as described above.

      AssayGeneralClass: BAO:0000062 patch clamp

      AssayMaterialUsed: CLO:0037237 HEK293-derived cell

      AssayDescription: HEK293T-derived cells stably expressing wild type or variant SCN5A were patch clamped and currents elicited in response to activation, inactivation, and recovery from inactivation were recorded, as well as late current measurements.

      AssayReadOutDescription: Peak current density relative to wild type, which was set to 100%

      AssayRange: %

      AssayNormalRange: Peak current density 75-125% of wild type

      AssayAbnormalRange: Peak current density 10-50% of wildtype

      AssayIndeterminateRange: Peak current density 50-75% of wildtype

      ValidationControlPathogenic: 0

      ValidationControlBenign: 10

      Replication: At least 2 independent transfections and at least 10 replicate cells per variant (see ReplicateCount in FunctionalAssayResult annotations for each variant).

      StatisticalAnalysisDescription: Two-tailed t tests or two-tailed Mann-Whitney U tests were used to compare variant parameters between groups of variants, while differences in dispersion between groups were tested with Levene’s test.

      CGType:FunctionalAssay FuncAssay:1 BAO:0000062 CLO:0037237 MONDO:0011001 AssayRangeType:Quantitative UO:0000187
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    cell.com/ajhg/fulltext/S0002-9297(20)30162-2