Case1: Female, 15, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: "This mutation was confirmed in the proband and parents."

CasePresentingHPOs: HP:0000225 (Gingival bleeding)

CaseHPOFreeText: Site of bleeding: skin, menstrual

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: See Table 1 (information provided)

PlateletAggregation: See Table 1 (information provided)

CasePreviousTesting: Screened mutations in ITGA2B and ITGB3 by multiplex polymerase chain reaction (PCR) amplification (MPCR) and conformation-sensitive gel electrophoresis

Gene: ITGB3

Variant: NM_000212.2:c.646T>C (p.Tyr216His)

LegacyVariant: (p.Tyr190His)

ClinVar: N/A

CAiD: CA400023428

gnomAD: N/A