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    Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease
    1
    1. ClingenBaseline 22 Oct 2026
      VWD1-1339.751.50.777428.1NormalIntron 37c.6599-2A>G‡-

      Case: Croatian adult patient

      DiseaseAssertion: VWD1

      FamilyInfo: Not specified

      ParentalGenotype(s): Not specified

      CasePresentingHPOs: HP:0001892, HP:0011890, HP:0000132, HP:0002239, HP:0000790, HP:0001342

      CaseHPOFreeText: Normal VWF:Ag of 51.5%, reduced VWF:GPIbM of 39.7%, normal FVIII:C of 74% and reduced VWF:CBA of 28.1%. Normal multimer distribution.

      CaseNOTHPOs: Not specified

      CaseNOTHPOFreeText: Normal multimer size distribution (tested in Agarose gel).

      CasePreviousTesting: Not reported

      GenotypingMethod: Illumina NGS, custom designed panel covering all 52 exons as well as intronic flanking regions and promoter region of VWF gene.

      PreviouslyPublished: None

      Gene: VWF

      Variant: c.6599-2A>G

      HGVS: NM_000552.4:c.6599-2A>G

      ClinVarID: Not available

      CAID: CA383490280

      gnomAD: Not available

      DeNovo DiseaseEntity:VWD1 Mutation:Intronic Zygosity:Heterozygous CAID:CA383490280 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC9086814/