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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
    4
    1. ClingenBaseline 25 Oct 2026
      I : 1

      Case#: F18, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 95; VWF:RCo = 30; VWF:GPIbM = 70; 0.32; 0.73; 2.31

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1308C];[=]

      HGVS: c.3922C>T (p.Arg1308Cys)

      CAID: CA114125

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114125 Mutation:Missense Zygosity:Heterozygous InheritancePattern:AutosomalDominant inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 25 Oct 2026
      I : 1

      Case#: F17, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 30; VWF:RCo = 8; VWF:GPIbM = 23; 0.27; 0.75; 2.81

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1308C];[=]

      HGVS: c.3922C>T (p.Arg1308Cys)

      CAID: CA114125

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114125 InheritancePattern:AutosomalDominant Mutation:Missense Zygosity:Heterozygous inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 25 Oct 2026
      I : 1

      Case#: F16, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 48; VWF:RCo = 13; VWF:GPIbM = 48; 0.27; 1.00; 3.65

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1308C];[=]

      HGVS: c.3922C>T (p.Arg1308Cys)

      CAID: CA114125

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114125 Mutation:Missense InheritancePattern:AutosomalDominant Zygosity:Heterozygous inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    4. ClingenBaseline 25 Oct 2026
      I : 1

      Case#: F15, I:1

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 43; VWF:RCo = 12; VWF:GPIbM = 30; 0.28; 0.70; 2.56

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1308C];[=]

      HGVS: c.3922C>T (p.Arg1308Cys)

      CAID: CA114125

      gnomAD: absent from gnomad v4.1.0

      CAID: CA114125 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