682 Matching Annotations
  1. Feb 2021
  2. jmg.bmj.com jmg.bmj.com
    Blood functional assay for rapid clinical interpretation of germline TP53 variants
    82
    1. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 14.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    2. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.3

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    3. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.5

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    4. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    5. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    6. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.8

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    7. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12.8

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    8. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 14.6

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    9. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.6

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    10. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 8.9

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    11. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    12. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.6

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    13. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12.5

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    14. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 82

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
    15. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 80

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:51 CAID:CA000493 ClinVarID:142702 ValidationControl:Pathogenic
    16. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 69

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:50 CAID:CA397836336 ValidationControl:Pathogenic
    17. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:49 CAID:CA000468 ClinVarID:127825 ValidationControl:Pathogenic
    18. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:47 CAID:CA16603074 ClinVarID:376659 ValidationControl:Pathogenic
    19. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 77

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:40 CAID:CA397837761 ValidationControl:Pathogenic
    20. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:33 CAID:CA16620623 ClinVarID:420137 ValidationControl:Pathogenic
    21. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:31 CAID:CA000308 ClinVarID:182965 ValidationControl:Pathogenic
    22. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 104

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:28 CAID:CA16603033 ClinVarID:376612 ValidationControl:Pathogenic
    23. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:27 CAID:CA16603034 ClinVarID:376613 ValidationControl:Pathogenic
    24. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:22 CAID:CA16603066 ClinVarID:376649 ValidationControl:Pathogenic
    25. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:14 CAID:CA397844631 ValidationControl:Pathogenic
    26. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:11 CAID:CA000106 ClinVarID:41723 ValidationControl:Pathogenic
    27. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 56

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:44 CAID:CA497716198 ValidationControl:Pathogenic
    28. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 61

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:34 CAID:CA645588668 ValidationControl:Pathogenic
    29. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 51

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:32 CAID:CA397839547 ClinVarID:458555 ValidationControl:Pathogenic
    30. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:29 CAID:CA1139768487 ValidationControl:Pathogenic
    31. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 60

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:21 CAID:CA645588993 ValidationControl:Pathogenic
    32. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 65

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:19 CAID:CA497925664 ClinVarID:634779 ValidationControl:Pathogenic
    33. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:13 CAID:CA645369686 ClinVarID:428860 ValidationControl:Pathogenic
    34. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 45

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:9 CAID:CA000073 ClinVarID:182957 ValidationControl:Pathogenic
    35. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 58

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:3 ValidationControl:Pathogenic
    36. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 49

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:2 ValidationControl:Pathogenic
    37. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    38. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:43 CAID:CA000434 ClinVarID:12366 ValidationControl:Pathogenic
    39. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:39 CAID:CA000387 ClinVarID:12356 ValidationControl:Pathogenic
    40. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 94

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:38 CAID:CA000382 ClinVarID:12347 ValidationControl:Pathogenic
    41. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 97

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:37 CAID:CA000374 ClinVarID:100815 ValidationControl:Pathogenic
    42. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
    43. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:24 CAID:CA000256 ClinVarID:127815 ValidationControl:Pathogenic
    44. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
    45. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 88

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 3

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 ValidationControl:WildType AssayControl:Normal
    46. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 2

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 ValidationControl:WildType AssayControl:Normal
    47. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 100

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 1

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 ValidationControl:WildType AssayControl:Normal
    48. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
    49. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:51 CAID:CA000493 ClinVarID:142702 ValidationControl:Pathogenic
    50. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:50 CAID:CA397836336 ValidationControl:Pathogenic
    51. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:49 CAID:CA000468 ClinVarID:127825 ValidationControl:Pathogenic
    52. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:47 CAID:CA16603074 ClinVarID:376659 ValidationControl:Pathogenic
    53. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:40 CAID:CA397837761 ValidationControl:Pathogenic
    54. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:33 CAID:CA16620623 ClinVarID:420137 ValidationControl:Pathogenic
    55. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:31 CAID:CA000308 ClinVarID:182965 ValidationControl:Pathogenic
    56. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:28 CAID:CA16603033 ClinVarID:376612 ValidationControl:Pathogenic
    57. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:27 CAID:CA16603034 ClinVarID:376613 ValidationControl:Pathogenic
    58. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:22 CAID:CA16603066 ClinVarID:376649 ValidationControl:Pathogenic
    59. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:14 CAID:CA397844631 ValidationControl:Pathogenic
    60. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:11 CAID:CA000106 ClinVarID:41723 ValidationControl:Pathogenic
    61. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:44 CAID:CA497716198 ValidationControl:Pathogenic
    62. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:34 CAID:CA645588668 ValidationControl:Pathogenic
    63. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:32 CAID:CA397839547 ClinVarID:458555 ValidationControl:Pathogenic
    64. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:29 CAID:CA1139768487 ValidationControl:Pathogenic
    65. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 8.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:21 CAID:CA645588993 ValidationControl:Pathogenic
    66. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:19 CAID:CA497925664 ClinVarID:634779 ValidationControl:Pathogenic
    67. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:13 CAID:CA645369686 ClinVarID:428860 ValidationControl:Pathogenic
    68. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:9 CAID:CA000073 ClinVarID:182957 ValidationControl:Pathogenic
    69. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:3 ValidationControl:Pathogenic
    70. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:2 ValidationControl:Pathogenic
    71. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    72. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:43 CAID:CA000434 ClinVarID:12366 ValidationControl:Pathogenic
    73. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:39 CAID:CA000387 ClinVarID:12356 ValidationControl:Pathogenic
    74. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:38 CAID:CA000382 ClinVarID:12347 ValidationControl:Pathogenic
    75. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:37 CAID:CA000374 ClinVarID:100815 ValidationControl:Pathogenic
    76. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
    77. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:24 CAID:CA000256 ClinVarID:127815 ValidationControl:Pathogenic
    78. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
    79. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 11.5

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 3

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 ValidationControl:WildType AssayControl:Normal
    80. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.8

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 2

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 ValidationControl:WildType AssayControl:Normal
    81. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 13.6

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 1

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 ValidationControl:WildType AssayControl:Normal
    82. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 52

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the c.723del variant in combination with the c.*1175A>C variant in heterozygosity.

      CGType:FunctionalAssayResult FuncAssay:4 Variant:36 CAID:CA497717451
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    jmg.bmj.com/content/early/2020/10/13/jmedgenet-2020-107059