Case#: 23013, Age 46, Female, Blood Type O+ (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is the member of Family #2309.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding Score 0, VWF:Ag: 33, VWF:RCo: 27.5, FVIII:C:56, VWF:CB:26

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Protein Expression: N/A

CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

Gene: VWF

Variant: NM_000552.4:c.6911G>A (p.Cys2304Tyr)

ClinVar: 100451 ClinVar

CAID: CA228762 CAID

gnomAD: N/A