Case#: Elayaperumal_2018_V-283, M, 3 y.o. (onset), origin in India

DiseaseAssertion: VWD type 3

FamilyInfo: no consanguinity, no family history

ParentalGenotype: not reported

CasePresentingHPOs:

CaseHPOFreeText: bleeding score of 12, VWF:Ag of 0, FVIII:C 4.3%

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: not reported

GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

Gene: VWF

Variant: homozygous c.6321G>A (p.Trp2107*)

HGVS: NM_000552.3:c.6321G>A

ClinVarID: not reported

CAID: CA383491677

gnomAD: not reported

MultipleGeneVariants: not reported

Case#: Elayaperumal_2018_V-115, female, 1 year old (onset), origin in India

DiseaseAssertion: VWD type 3

FamilyInfo: consanguinity

ParentalGenotype: not reported. family history of bleeding.

CasePresentingHPOs:

CaseHPOFreeText: bleeding score of 13. VWF:Ag of 0. FVIII:C of 1.9%

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: not reported

GenotypingMethod: CSGE and Sanger sequencing of VWF only.

Gene: VWF

Variant: homozygous c.6321G>A (p.Trp2107*)

HGVS: NM_000552.3:c.6321G>A (p.Trp2107*)

ClinVarID: not found

CAID: CA383491677

gnomAD: not found

MultipleGeneVariants: not reported