Case#: Elayaperumal_2018_V-290 , Male, 7 months (onset), origin in India

DiseaseAssertion: VWD type 3

FamilyInfo: no consanguinity reported. positive family history

ParentalGenotype: not reported

CasePresentingHPOs:

CaseHPOFreeText: bleeding score of 12, VWF:Ag 0, FVIII:C 9.2%

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: not reported

GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

Gene: VWF

Variant: heterozygous c.6798+1G>C

HGVS: NM_000552.3:c.6798+1G>C

ClinVarID: not found

CAID: CA383489728

gnomAD: not found

MultipleGeneVariants:

Note: other allele not identified. Large deletion possible.