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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients
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    1. ClingenBaseline 22 Oct 2026

      Case#: 32004, Age 65, Female, Blood Type A-

      Disease Assertion: VWD 1

      FamilyInfo: The patient is the only member of Family#3204.

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding Score 19, VWF:Ag: 9.8, VWF:RCo:4, FVIII:C: 6.3, VWF:CB: 5

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.

      Gene: VWF

      Variant: NM_000552.4:c.2821-123A>C (p.=)

      ClinVar: N/A

      CAID: CA1139532189 CAID

      gnomAD: N/A

      Individual CaseInfo DiseaseEntity:VWD1 SupplementalData Gene:VWF InheritancePattern:NoInheritanceAssertion Zygosity:Heterozygous Mutation:Intronic CAID:CA1139532189 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5709099/