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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
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    1. ClingenBaseline 23 Oct 2026
      P20

      Case: P20, F/33

      DiseaseAssertion: VWD1

      FamilyInfo: No family history

      ParentalGenotype: NA

      CaseHPOFreeText: The bleeding score was 4, aPTT was 25 seconds, FVIII:C was 6%, VWF:RCo was 19 IU/dL, and VWF:Ag was 19 IU/dL, with a VWF:RCo/VWF:Ag ratio of 1.0. RIPA was normal, VWF multimer analysis was not tested, and platelet count was 475 × 10⁹/L.

      CasePreviousTesting: NA

      GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.

      Gene: VWF

      Variant: c.1135T>G, p.C379G, c.7390C>T, p.R2464C. Compound heterozygous

      HGVS: NM_000552.5(VWF):c.1135T>G (p.Cys379Gly), NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)

      ClinVar: 100467

      CAID: CA6403534 , CA228786

      gnomAD: https://gnomad.broadinstitute.org/variant/chr12-6071318-A-C?dataset=gnomad_r4, https://gnomad.broadinstitute.org/variant/chr12-5976158-G-A?dataset=gnomad_r4

      InheritancePattern:AutosomalRecessive DiseaseEntity:VWD1 Mutation:Missense Zygosity:CompoundHeterozygous ClinVar: 100467 CAID: CA6403534 CAID: CA228786 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pmc.ncbi.nlm.nih.gov/articles/PMC6660331/