Case#: Patient B, Male, Age 30, Chinese

Disease Assertion: VWD3

FamilyInfo: Consanguineous marriage between parents. Parents had 2 daughters and a son. One daughter died (1 year old) due to bleeding disorder. Mother's VWF:Ag 58% and VWF:RCo 36%. Family pedigree in Figure 2 (a). Both parents were heterozygous carriers of the variant.

Parental Genotype: Both Heterozygous

CasePresentingHPOs: HP:0003645

(Prolonged partial thromboplastin time)

CaseHPOFreeText: Hematoma in the lower extremity, VWF:Ag: 0.5%, VWF:RCo: 0.1%, FVIII:C 1.2%, APTT: 72.0 s

CaseNotHPOs:

CaseNotHPOFreeText: PT: 13.6 s, TT: 14.9s

Protein Expression: N/A

CasePreviousTesting: NGS targeting all exons and covered F8, F9, and VWF genes; and Sanger Sequencing

Gene: VWF

Variant: NM_000552.4:c.6450C>A

ClinVar: N/A

CAID: CA383491381 CAID

gnomAD:N/A