Case: Row 22 in Supplemental Table 1.

DiseaseAssertion: VWD type 1

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs:

CaseHPOFreeRext: FVIII:C/VWF:Ag = 1.6; VWFpp/VWF:Ag = 1.5

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting:

GenotypingMethod: Genetic analysis was performed at the laboratory of hematology of the Radboud University Medical Center in Nijmegen. Ion semiconductor sequencing (Ion-Torrent) was used to analyze the VWF gene from peripheral blood obtained in EDTA tubes or from saliva samples. The 52 exons of VWF gene were analyzed including ±20 bp exon-intron boundaries. If no VWF gene variant was detected, multiplex ligation-dependent probe amplification (MLPA) analysis was performed to find large deletions or duplications. Thus, MLPA was performed in 183 patients (46.9%). All variants were confirmed with Sanger sequencing.

PreviouslyPublished:

Gene: VWF

Variant: 2878C>T R960W

HGVS: VWF:c.2878C>T p.Arg960Trp

ClinVarID: 1033091

CAID:

gnomAD: 0.0001295 (209 in 1614054) no homozygotes https://gnomad.broadinstitute.org/variant/12-6029431-G-A?dataset=gnomad_r4