Submissions for variant NM_000552.5(VWF):c.2365A>G (p.Thr789Ala)

gnomAD frequency: 0.40814  dbSNP: rs1063856

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250620	SCV000305289	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000266084	SCV000380626	likely benign	Hereditary von Willebrand disease	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755433	SCV000605588	benign	not provided	2021-03-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000755433	SCV001148595	likely benign	not provided	2016-10-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000755433	SCV001884387	benign	not provided	2018-10-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32521332, 30817071, 30046743, 18923835, 23636243, 21163921, 23690449, 21534939)
Genome-Nilou Lab	RCV002243964	SCV002514666	benign	von Willebrand disease type 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243965	SCV002514667	benign	von Willebrand disease type 3	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243966	SCV002514668	benign	von Willebrand disease type 2	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000755433	SCV005213671	likely benign	not provided		criteria provided, single submitter	not provided
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000755433	SCV001548764	uncertain significance	not provided		no assertion criteria provided	clinical testing	Allele frequency is common in at least one population database (frequency: 58.215% 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000250620	SCV001927106	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000250620	SCV001953745	benign	not specified		no assertion criteria provided	clinical testing