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    Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes
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    1. ClingenBaseline 24 Oct 2026
      c.2043G>A

      Case#: 16

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVIII:C 31% (Mild Phenotype), No inhibitors present

      CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing

      Gene: F8

      Variant: NM_000132.3:c.2043G>A (p.Met681Ile)

      ClinVar: NA

      CAID: CA414909257

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency InheritancePattern:NoInheritanceAssertion CAID:CA414909257 Mutation:Missense ParentalTest:Unknown Zygosity:NoZygosityAssertion FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf