Submissions for variant NM_000553.6(WRN):c.3453G>A (p.Glu1151=)

gnomAD frequency: 0.00054  dbSNP: rs144116311

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001083791	SCV000285562	benign	Werner syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000393449	SCV000340728	uncertain significance	not provided	2016-03-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001083791	SCV001323842	uncertain significance	Werner syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago	RCV001818576	SCV002071497	likely benign	not specified	2021-01-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000393449	SCV004164596	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	WRN: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000393449	SCV001808033	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000393449	SCV001969397	likely benign	not provided		no assertion criteria provided	clinical testing