Case2: No assertion made on age, gender or ethnicity

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Table 1 states family history is available.

ParentalGenotype: The identified variants were heterozygote in parents and were not present as homozygote in their healthy members of the family as expected in cases where mutations are deleterious.

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding time is greater than 20 minutes and prolonged clotting time

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

CasePreviousTesting: Genetic study of patient was conducted using direct sequencing of entire coding and exon-intron boundaries of the ITGA2B and ITGB3 genes.

Gene: ITGB3

Variant: NM_000212.2:c.1658_1660del (p.Ser553del)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA626684826 (p.Ser553del)

gnomAD: MAF in Latino population: 0.0001158 https://gnomad.broadinstitute.org/variant/17-45369899-TCTC-T