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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 25 Oct 2026
      II : 1

      Case#: F5, II:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: all mutimers present, VWF:Ag = 56; VWF:RCo = 48; VWF:GPIbM = 49; 0.86; 0.87; 1.01

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[I1372S];[=]

      HGVS: c.4115T>G (p.Ile1372Ser)

      CAID: CA228535

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019303-A-C?dataset=gnomad_r4

      CAID: CA228535 Zygosity:Heterozygous InheritancePattern:AutosomalDominant Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 25 Oct 2026
      I : 1

      Case#: F5, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: all mutimers present, VWF:Ag = 105; VWF:RCo = 90; VWF:GPIbM = 87; 0.86; 0.82; 0.96

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[I1372S];[=]

      HGVS: c.4115T>G (p.Ile1372Ser)

      CAID: CA228535

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019303-A-C?dataset=gnomad_r4

      CAID: CA228535 InheritancePattern:AutosomalDominant Mutation:Missense Zygosity:Heterozygous inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/jth.13062