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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination
    1
    1. ClingenBaseline 21 Oct 2026
      II : 1

      Case#: F20, II:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 45; VWF:RCo = 7; VWF:GPIbM = 43; 0.16; 0.95; 6.11

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[V1316M];[=]

      HGVS: c.3946G>A (p.Val1316Met)

      CAID: CA114127

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114127 InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/jth.13062