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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 25 Oct 2026
      I : 1

      Case#: F7, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: partial loss of high molecular weight multimers, VWF:Ag = 88; VWF:RCo = 46; VWF:GPIbM = 81; 0.52; 0.93; 1.77

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[I1309V];[=]

      HGVS: c.3925A>G (p.Ile1309Val)

      CAID: CA228492

      gnomAD: absent from gnomad v4.1.0

      CAID: CA228492 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