Submissions for variant NM_000553.6(WRN):c.1725T>C (p.Tyr575=)

gnomAD frequency: 0.00516  dbSNP: rs13438802

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000230502	SCV000285526	benign	Werner syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000230502	SCV001327503	likely benign	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001547339	SCV001767018	likely benign	not provided	2021-04-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818573	SCV002066257	likely benign	not specified	2021-11-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000230502	SCV002514973	benign	Werner syndrome	2021-12-05	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316245	SCV004016254	benign	Wiskott-Aldrich syndrome	2023-07-07	criteria provided, single submitter	clinical testing