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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
      II : 2

      Case#: F14, II:2

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 12; VWF:RCo = 3; VWF:GPIbM = 9; 0.21; 0.71; 3.31

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[C275R];[P1337L]

      HGVS: c.823T>C (p.Cys275Arg), c.4010C>T (p.Pro1337Leu)

      CAID: CA228836, CA228510

      gnomAD: absent from gnomad, https://gnomad.broadinstitute.org/variant/12-6019408-G-A?dataset=gnomad_r4

      CAID: CA228836 CAID: CA228510 InheritancePattern:AutosomalRecessive Mutation:Missense Zygosity:CompoundHeterozygous inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/jth.13062