Case: P1, female, 36yo

DiseaseAssertion: VWD2M

FamilyInfo: NA

ParentalGenotype(s): NA

CasePresentingHPOs: HP:0012147, HP:0030129, HP:0030130

(Reduced quantity of VWF, Impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity)

CaseHPOFreeText: bleeding score = 7; VWF:Ag (%) = 22, VWF:RCo(%) = 11, VWF:RCo/VWF:Ag ratio = 0.50, VWF:CIIIB (%) = 19, VWF:CIIIB/VWF:Ag ratio = 0.86, VWF:CVIB (%) = 13, VWF:CVIB/VWF:Ag ratio = 0.59

CaseNOTHPOs: HP:0030132

(Absence of large von Willebrand factor multimers)

CaseNOTHPOFreeText: NA

CasePreviousTesting: NA

GenotypingMethod: NGS

PreviouslyPublished: NA

Gene: VWF

Variant 1: c.3944G>A (p.Arg1315His)

HGVS: NM_000552.4(VWF):c.3944G>A (p.Arg1315His)

ClinVarID: 100311; https://www.ncbi.nlm.nih.gov/clinvar/variation/100311/

CAID:

gnomAD: MAF = 0.0001633 (1/6124 alleles) in "Other" population; https://gnomad.broadinstitute.org/variant/12-6128640-C-T?dataset=gnomad_r2_1

Variant 2: c.7464C>T (p.Gly2488=)

HGVS: NM_000552.4(VWF):c.7464C>T (p.Gly2488=)

ClinVar: 619755; https://www.ncbi.nlm.nih.gov/clinvar/variation/619755/

gnomAD: MAF = 0.000008799 (1/113644 alleles) in European (Non-Finnish) population; https://gnomad.broadinstitute.org/variant/12-6080849-G-A?dataset=gnomad_r2_1