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    blt-16-392.pdf
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    1. ClingenBaseline 22 Oct 2026
      37-year old woman

      Case1: Female patient, 37-year-old, At age 25(pregnant) an F8 mutation was identified, Family History of Severe HA

      DiseaseAssertion: Mild hemophilia A due to a family mutation and de novo mutation

      FamilyInfo: Family also has the large deletion of exon 1 to 22 of the F8 gene, Son (age 10) has mild Hemophilia A

      ParentalTesting: Father tested negative for any F8 mutations, Mother is an asymptomatic carrier of the familial large deletion

      CasePresentingHPOs: HP:0000978 (Bruising Susceptibility), HP:0000132 (Menorrhagia)

      CaseHPOFreeText: FVIII:C 7%, compounded heterozygous for the large gene deletion and c.1569G>T mild mutation

      CasePreviousTesting: Molecular analysis, Sequenced the whole coding region of the F8 gene

      Gene: F8

      Variant: 1. F8, EX1-22DEL 2. NM_000132.3:c.1569G>T (p.Leu523=)

      ClinVar: 1. 10122 https://www.ncbi.nlm.nih.gov/clinvar/variation/10122/

      1. 439678 https://www.ncbi.nlm.nih.gov/clinvar/variation/439678/

      gnomAD: 1. Not reported (F8, EX1-22DEL)

      1. MAF for Leu523= in Latino population 0.00007293 <br /> https://gnomad.broadinstitute.org/variant/X-154185415-C-A?dataset=gnomad_r2_1
      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency InheritancePattern:Xlinked InheritancePattern:DeNovoAssertion Mutation:Large Zygosity:CompoundHeterozygous ClinVarID:10122 ClinVarID:439678 FVIIItesting:Partial ParentalTest:Both ParentalConfirmation:Paternity Mutation:Synonymous inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6034774/