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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 23 Oct 2026
      c.518C>T

      Case#: 43

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C <1% (Severe Phenotype)

      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: F9

      Variant: NM_000133.3:c.518C>T (p.Ala173Val)

      ClinVar: NA

      CAID: CA414439510

      gnomAD: Not reported

      CAID:CA414439510 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorIXDeficiency Mutation:Missense FIXtesting:Partial Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 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