Submissions for variant NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)

gnomAD frequency: 0.00097  dbSNP: rs3087425

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000122280	SCV000227777	benign	not specified	2015-01-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000032137	SCV000285538	benign	Werner syndrome	2025-01-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000032137	SCV001325359	likely benign	Werner syndrome	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000122280	SCV002500466	likely benign	not specified	2022-03-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000032137	SCV002514982	benign	Werner syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004704818	SCV005223361	likely benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000032137	SCV000055695	not provided	Werner syndrome		no assertion provided	literature only	Variant common in Latino population (heterozygote frequency of 0.02); significantly reduces helicase & exonuclease activity in vitro. Homozygotes do not exhibit a Werner syndrome phenotype
ITMI	RCV000122280	SCV000086505	not provided	not specified	2013-09-19	no assertion provided	reference population