Case#: 37002, Age 42, Female, Blood Type O+ (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is the only member of Family# 3702

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: VWF:Ag: 36, VWF:RCo: 35, FVIII:C:49, VWF:CB: 27

CaseNotHPOs: N/A

CaseNotHPOFreeText: Bleeding Score 3

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.324-2_326dup (p.Ser110GlufsTer13)

ClinVar: N/A

CAID: CA1139532196 CAID

gnomAD:N/A