I : 1
Case#: F20, I:1
DiseaseAssertion: Type 2 VWD
CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 34; VWF:RCo = 8; VWF:GPIbM = 23; 0.22; 0.68; 3.08
CasePreviousTesting: Not clearly described
Gene: VWF
Variant: p.[V1316M];[=]
HGVS: c.3946G>A (p.Val1316Met)
CAID: CA114127
gnomAD: absent from gnomad v4.1.0
I : 1
Case#: F19, I:1
DiseaseAssertion: Type 2 VWD
CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 35; VWF:RCo = 5; VWF:GPIbM = 28; 0.14; 0.81; 5.68
CasePreviousTesting: Not clearly described
Gene: VWF
Variant: p.[V1316M];[=]
HGVS: c.3946G>A (p.Val1316Met)
CAID: CA114127
gnomAD: absent from gnomad v4.1.0
II : 1
Case#: F20, II:1
DiseaseAssertion: Type 2 VWD
CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 45; VWF:RCo = 7; VWF:GPIbM = 43; 0.16; 0.95; 6.11
CasePreviousTesting: Not clearly described
Gene: VWF
Variant: p.[V1316M];[=]
HGVS: c.3946G>A (p.Val1316Met)
CAID: CA114127
gnomAD: absent from gnomad v4.1.0