2 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF
    2
    1. ClingenBaseline 21 Oct 2026
      0.32

      Case: 2B-5

      DiseaseAssertion: VWD2B

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.32; AcuStar CB/Ag = 0.19; ELISA CB/Ag = 0.38

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 1373334

      Gene: VWF

      Variant: c.4010C>T (p.Pro1337Leu)

      HGVS: NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu)

      ClinVarID: 100314; https://www.ncbi.nlm.nih.gov/clinvar/variation/100314/?new_evidence=false

      CAID:

      gnomAD: MAF = 0.00005440 in East Asian population; https://gnomad.broadinstitute.org/variant/12-6128574-G-A

      Individual CaseInfo PreviouslyPublished Gene:VWF DiseaseEntity:VWD2B InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100314 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    2. ClingenBaseline 21 Oct 2026
      0.62

      Case: 2B-2

      DiseaseAssertion: VWD2B

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.62; AcuStar CB/Ag = 0.50; ELISA CB/Ag = 0.47

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 1373334

      Gene: VWF

      Variant: c.4010C>T (p.Pro1337Leu)

      HGVS: NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu)

      ClinVarID: 100314; https://www.ncbi.nlm.nih.gov/clinvar/variation/100314/?new_evidence=false

      CAID:

      gnomAD: MAF = 0.00005440 in East Asian population; https://gnomad.broadinstitute.org/variant/12-6128574-G-A

      Individual CaseInfo PreviouslyPublished Gene:VWF InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100314 DiseaseEntity:VWD2B inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/ijlh.12743