ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3375T>C (p.Ser1125=)

gnomAD frequency: 0.00009  dbSNP: rs377535272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869622 SCV001011062 likely benign Werner syndrome 2024-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001766777 SCV001991694 uncertain significance not provided 2019-08-19 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Nucleotide substitution has no predicted effect on splicing but is conserved across species; Has not been previously published as pathogenic or benign to our knowledge

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