Submissions for variant NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu)

gnomAD frequency: 0.00052  dbSNP: rs139323683

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724001	SCV000228696	uncertain significance	not provided	2016-04-22	criteria provided, single submitter	clinical testing
Invitae	RCV001083827	SCV000285560	benign	Werner syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001083827	SCV001323841	likely benign	Werner syndrome	2017-04-27	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.
Genetic Services Laboratory, University of Chicago	RCV000122288	SCV002071494	likely benign	not specified	2021-10-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915221	SCV004742268	benign	WRN-related condition	2020-07-14	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI	RCV000122288	SCV000086515	not provided	not specified	2013-09-19	no assertion provided	reference population