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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
      P18

      Case: P18, F/39

      DiseaseAssertion: VWD1

      FamilyInfo: No family history

      ParentalGenotype: NA

      CaseHPOFreeText: The bleeding score was 9, aPTT was 40 seconds, FVIII:C was 15%, VWF:RCo was 6 IU/dL, and VWF:Ag was 8 IU/dL, with a VWF:RCo/VWF:Ag ratio of 0.8. The VWF multimer pattern was absent, RIPA was 2 ohms, and the platelet count was 273 × 10⁹/L.

      CasePreviousTesting: NA

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

      Gene: VWF

      Variant: c.3943C>T, p.R1315C — heterozygous

      HGVS: NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)

      ClinVar: 100310

      CAID: CA228502

      gnomAD: https://gnomad.broadinstitute.org/variant/chr12-6019475-G-A?dataset=gnomad_r4

      InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:Heterozygous ClinVar: 100310 CAID: CA228502 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pmc.ncbi.nlm.nih.gov/articles/PMC6660331/