Case#: 32 year old female

DiseaseAssertion: VWD Type 2M

CaseHPOFreeText4: Testing was repeated multiple times, with initial results being untrustworthy. Follow up testing is as follows: VWF:RCo/VWF:Ag ratio = 0.61, VWF:CB = 10. Normal multimers

CasePreviousTesting: Molecular analysis by next generation gene sequencing analysis of VWF, F8, GPIBA and GPIBB.

Gene: VWF

Variant: variant in VWF at exon 31 (c.5347 T > G) that leads to a VWF protein change of p.Ser1783Ala

HGVS: NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala)

ClinVar: 31012

CAID: CA228715

gnomAD: 0.0006918 in South Asian pop