Case#: 14003, Age 40, Female, Blood Type O+,

Disease Assertion: VWD 1

FamilyInfo: The patient is the only member of Family#1403.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: VWF:Ag:28. VWF:RCo:20,FVIII:C:61, VWF:CB:18

CaseNotHPOs: N/A

CaseNotHPOFreeText: Bleeding Score 6

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.221-70G>T and NM_000552.4:c.478G>A

ClinVar: N/A

CAID: CA923726380 and CA383518171 CAID1 CAID2

gnomAD: N/A

Case: 47, F, 2 years, Indian

DiseaseAssertion: VWD type 3

FamilyInfo: no family history of disease, Consanguinity: yes

ParentalGenotype: n/a

CasePresentingHPOs: n/a

CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): 2.3, Bleeding Score: 6

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

CasePreviousTesting: n/a

Gene: VWF

Variant:

c.478G>A (p.Gly160Arg), Exon 5

Homozygous