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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 : 3

      Case#: F4, I:3

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: all mutimers present, VWF:Ag = 34; VWF:RCo = 21; VWF:GPIbM = 31; 0.62; 0.92; 1.49

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1308L];[=]

      HGVS: c.3923G>T (p.Arg1308Leu)

      CAID: CA6402650

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019495-C-A?dataset=gnomad_r4

      CAID: CA6402650 Mutation:Missense Zygosity:Heterozygous InheritancePattern:AutosomalDominant inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      I : 2

      Case#: F4, I:2

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: all mutimers present, VWF:Ag = 40; VWF:RCo = 25; VWF:GPIbM = 38; 0.63; 0.95; 1.52

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1308L];[=]

      HGVS: c.3923G>T (p.Arg1308Leu)

      CAID: CA6402650

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019495-C-A?dataset=gnomad_r4

      CAID: CA6402650 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