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    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#: 21023, Age 43, Female, Blood Type O+ (Table S3)

      Disease Assertion: VWD 1

      FamilyInfo: The patient is the only member of Family #2120.

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: VWF:Ag:7.6, VWF:RCo:6, FVIII:C: 11, VWF:CB:3.9

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Bleeding Score 2

      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.=) , NM_000552.4:c.2103C>T (p.Cys701=), and NM_000552.4:c.6248G>A (p.Gly2083Asp)

      ClinVar: 310076 ClinVar1

      CAID: CA6403542 , CA6403175, and CA383492072 CAID1 CAID2 CAID3

      gnomAD: MAF of 0.008911 (222/ 24914 alleles) in the African population (CA6403542). MAF of 0.005928 (148/ 24968 alleles) in the African population (CA6403175). gnomAD1

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion Zygosity:Heterozygous SupplementalData CAID:CA6403542 CAID:CA6403175 ClinVar:310076 CAID:CA383492072 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/