Submissions for variant NM_000553.6(WRN):c.1882C>G (p.Leu628Val)

gnomAD frequency: 0.00050  dbSNP: rs77969734

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227204	SCV000285528	benign	Werner syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000227204	SCV001320244	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.
Genome-Nilou Lab	RCV000227204	SCV002514976	benign	Werner syndrome	2021-12-05	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315782	SCV004016238	benign	Wiskott-Aldrich syndrome	2023-07-07	criteria provided, single submitter	clinical testing
ITMI	RCV000122276	SCV000086501	not provided	not specified	2013-09-19	no assertion provided	reference population