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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 24 Oct 2026

      Case#: 16001, Age 50, Female, Blood Type A+

      Disease Assertion: VWD 1

      FamilyInfo: The patient is one of two members of Family#1616. Both patients have the same variants. (Patient#16002)

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding Score 7, VWF:Ag:21, VWF:RCo: 16, FVIII:C:108, VWF:CB:20

      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.1110-26T>A (p.=) and NM_000552.4:c.5695T>C (p.Cys1899Arg)

      ClinVar: N/A

      CAID: CA6403542 and CA6402177 CAID1 CAID2

      gnomAD: MAF of 0.008911 (222/ 24914 alleles) in the African Population ( CA6403542). MAF of 0.00006892 (1/14510 alleles) in the African population (CA6402177)

      gnomAD1 gnomAD2

      Individual CaseInfo SupplementalData DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion Zygosity:Heterozygous CAID:CA6403542 CAID:CA6402177 Mutation:Intronic Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5709099/