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    hae14141-sup-0001-tables1.pdf
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    1. ClingenBaseline 21 Oct 2026
      113

      Case#: 113, male, 27 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.388+5G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA873357439

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Splice ParentalConfirmation:Maternity SupplementalData CAID:CA873357439 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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