Submissions for variant NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)

gnomAD frequency: 0.00132  dbSNP: rs142614369

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000228973	SCV000285571	benign	Werner syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000228973	SCV000473356	uncertain significance	Werner syndrome	2018-01-12	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.
Eurofins Ntd Llc (ga)	RCV000727484	SCV000708978	uncertain significance	not provided	2017-06-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000228973	SCV000897450	uncertain significance	Werner syndrome	2018-10-31	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000228973	SCV001481227	uncertain significance	Werner syndrome	2020-01-13	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV000727484	SCV001823068	likely benign	not provided	2020-03-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327)
Mayo Clinic Laboratories, Mayo Clinic	RCV000727484	SCV004224151	uncertain significance	not provided	2022-03-22	criteria provided, single submitter	clinical testing	BP4
ITMI	RCV000122294	SCV000086521	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000727484	SCV001808775	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000727484	SCV001929087	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727484	SCV001976103	likely benign	not provided		no assertion criteria provided	clinical testing