Case#: Elayaperumal_2018_V-144, M, 1 y.o. (onset), origin in India

DiseaseAssertion: VWD type 3

FamilyInfo: consanguinity, family history of bleeding

ParentalGenotype: not reported

CasePresentingHPOs:

CaseHPOFreeText: bleeding score of 7, VWF:Ag of 0, FVIII:C of 5.9%

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: not reported

GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

Gene: VWF

Variant: homozygous c.1117C>T (p.Arg373*)

HGVS: NM_000552.3:c.1117C>T

ClinVarID: 100175

CAID: CA228261

gnomAD: MAF of 0.0001309 (4/30550 alleles, South Asian population) https://gnomad.broadinstitute.org/variant/12-6180502-G-A

MultipleGeneVariants:

Note: previously reported in LOVD