Case#: Elayaperumal_2018_V-138, F, 2 y.o. (onset), origin in India

DiseaseAssertion: VWD type 3

FamilyInfo: Consanguinity, family history of bleeding

ParentalGenotype: not reported

CasePresentingHPOs:

CaseHPOFreeText: bleeding score of 19, VWF:Ag of 0, FVIII:C of 1.9%

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: not reported

GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

Gene: VWF

Variant: Heterozygous c.3379+1G>A

HGVS: NM_000552.3:c.3379+1G>A

ClinVarID: 100257

CAID: CA228398

gnomAD: MAF 0.0001508 (3/19892 alleles, East Asian population) https://gnomad.broadinstitute.org/variant/12-6132796-C-T

MultipleGeneVariants: Since this patient was reportedly heterozygous, they should have another variant. However, only one was reported.