Case#: F14, II:2

DiseaseAssertion: Type 2 VWD

CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 12; VWF:RCo = 3; VWF:GPIbM = 9; 0.21; 0.71; 3.31

CasePreviousTesting: Not clearly described

Gene: VWF

Variant: p.[C275R];[P1337L]

HGVS: c.823T>C (p.Cys275Arg), c.4010C>T (p.Pro1337Leu)

CAID: CA228836, CA228510

gnomAD: absent from gnomad, https://gnomad.broadinstitute.org/variant/12-6019408-G-A?dataset=gnomad_r4

Case#: F8, I:1

DiseaseAssertion: Type 2 VWD

CaseHPOFreeText: partial loss of high molecular weight multimers, VWF:Ag = 37; VWF:RCo = 21; VWF:GPIbM = 34; 0.57; 0.92; 1.60

CasePreviousTesting: Not clearly described

Gene: VWF

Variant: p.[P1337L];[=]

HGVS: c.4010C>T (p.Pro1337Leu)

CAID: CA228510

gnomAD: https://gnomad.broadinstitute.org/variant/12-6019408-G-A?dataset=gnomad_r4