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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
      I : 1

      Case#: F8, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: partial loss of high molecular weight multimers, VWF:Ag = 37; VWF:RCo = 21; VWF:GPIbM = 34; 0.57; 0.92; 1.60

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[P1337L];[=]

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

      CAID: CA228510

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

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