Submissions for variant NM_000552.5(VWF):c.2880G>A (p.Arg960=)

gnomAD frequency: 0.25897  dbSNP: rs1800380

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176272	SCV000227902	benign	not specified	2014-09-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000176272	SCV000305293	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000314525	SCV000380621	likely benign	Hereditary von Willebrand disease	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001356972	SCV001885237	benign	not provided	2018-08-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243852	SCV002514649	benign	von Willebrand disease type 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243853	SCV002514650	benign	von Willebrand disease type 3	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243854	SCV002514651	benign	von Willebrand disease type 2	2021-12-05	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001356972	SCV001552280	uncertain significance	not provided		no assertion criteria provided	clinical testing	Allele frequency is common in at least one population database (frequency: 32.021% in gnomAD_Exomes) based on the frequency threshold of 0.5% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease. A synonymous variant not located in a splice region.