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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
    2
    1. ClingenBaseline 24 Oct 2026
      I : 1

      Case#: F13, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: complete loss of high MWM, VWF:Ag = 69; VWF:RCo = 50; VWF:GPIbM = 71; 0.72; 1.04; 1.43

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1341Q];[=]

      HGVS: c.4022G>A (p.Arg1341Gln)

      CAID: CA114129

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019396-C-T?dataset=gnomad_r4

      CAID: CA114129 Mutation:Missense InheritancePattern:AutosomalDominant Zygosity:Heterozygous inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      II : 1

      Case#: F12, II:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: complete loss of high MWM, VWF:Ag = 52; VWF:RCo = 18; VWF:GPIbM = 52; 0.34; 1.00; 2.92

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1341Q];[=]

      HGVS: c.4022G>A (p.Arg1341Gln)

      CAID: CA114129

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019396-C-T?dataset=gnomad_r4

      CAID: CA114129 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