ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1181C>T (p.Ser394Leu)

dbSNP: rs200487813
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464118 SCV000554380 likely benign Werner syndrome 2024-12-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000464118 SCV001482872 uncertain significance Werner syndrome 2019-07-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002510900 SCV002820582 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000464118 SCV005676836 uncertain significance Werner syndrome 2024-05-29 criteria provided, single submitter clinical testing

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