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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#: 07003, Age 29, Female, Blood Type O+ (Table S3)

      Disease Assertion: VWD1

      FamilyInfo: The patient is the only member of Family#0703.

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: VWF:Ag: 25, VWF:RCo:24.9, FVIII:C: 50, VWF:CB:28

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Bleeding Score 5

      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.5170+10C>T and NM_000552.4:c.8254-5T>G

      ClinVar: 100418 ClinVar1

      CAID: CA228702 and CA923726359 CAID1 CAID2

      gnomAD: MAF of 0.01298 (326/ 25116 alleles) in the European (Finnish) population (CA228702).

      gnomAD1

      Individual CaseInfo SupplementalData Gene:VWF DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion Zygosity:Heterozygous CAID:CA228702 ClinVar:100418 CAID:CA923726359 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5709099/