ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.968C>T (p.Ser323Leu)

gnomAD frequency: 0.00001  dbSNP: rs369277330
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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 RCV000470767 SCV000541405 likely benign Werner syndrome 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV002469016 SCV002765749 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24728327)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000470767 SCV006056104 uncertain significance Werner syndrome 2022-09-12 criteria provided, single submitter research
ITMI RCV000122308 SCV000086537 not provided not specified 2013-09-19 no assertion provided reference population

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