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    1. ClingenBaseline 25 Oct 2026
      20CabGT-20

      Case20: (Proband CabGT-21), Male, age not specified, North African

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      ProteinExpression: Flow cytometry showed <5% GPIIIa and GPIIb surface expression

      Platelet Aggregation: N/A

      CasePreviousTesting: Promoter and exon sequences of aIIb and b3 genes were amplified and directly sequence

      Gene: ITGB3

      Variant: NM_000212.2:c.100C>T (p.Arg34Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA8622852

      gnomAD MAF in the African population is 0.00008013 https://gnomad.broadinstitute.org/variant/17-45351805-C-T

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:Homozygous CAiD:CA8622852 ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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