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    1. ClingenBaseline 21 Oct 2026
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      Case23: Female, Arab, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0000132)

      (Epistaxis, menorrhagia)

      CaseHPOFreeText: Haematuria

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.409-2_419del

      LegacyVariant: N/A

      ClinVar: 2889

      CAiD: CA10575471

      gnomAD: N/A

      Individual CaseInfo Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Zygosity:Homozygous FamilyInfo:Minimal ProteinExpression:NotReported CAiD:CA10575471 ClinVarID:2889 PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    thieme-connect.com/products/ejournals/pdf/10.1055/s-0038-1676348.pdf