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    1. ClingenBaseline 23 Oct 2026
      2CabGT-2

      Case2: (Proband CabGT-2), Female, age not specified, European Caucasian

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      ProteinExpression: N/A

      Platelet Aggregation: N/A

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

      Gene: ITGA2B

      Variant: NM_000419.3:c.917dup (p.Arg307GlufsTer22) and NM_000419.3:c.1912dup (p.Cys639MetfsTer22)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA290954352 (p.Arg307GlufsTer22) and CA915940678 (p.Cys639MetfsTer22)

      gnomAD N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Frameshift Zygosity:CompoundHeterozygous CAiD:CA290954352 ProteinExpression:NotReported PlateletAggregation:NotReported CAiD:CA915940678 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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