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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF
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    1. ClingenBaseline 24 Oct 2026
      1

      Case: 2A-6

      DiseaseAssertion: VWD2A

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.36; AcuStar CB/Ag = 0.15; ELISA CB/Ag = 0.42

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: PMIDs: 1537829, 16322474

      Gene: VWF

      Variant: c.4513G>C (p.Gly1505Arg)

      HGVS: NM_000552.5(VWF):c.4513G>C (p.Gly1505Arg)

      ClinVarID: 100367; https://www.ncbi.nlm.nih.gov/clinvar/variation/100367/?oq=p.Gly1505Arg[varname]+&m=NM_000552.5(VWF):c.4513G%3EC%20(p.Gly1505Arg)

      CAID:

      gnomAD: absent

      Individual CaseInfo PreviouslyPublished Gene:VWF InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:100367 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/ijlh.12743