ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu) (rs139323683)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724001 SCV000228696 uncertain significance not provided 2016-04-22 criteria provided, single submitter clinical testing
Invitae RCV001083827 SCV000285560 benign Werner syndrome 2020-12-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001083827 SCV001323841 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.
ITMI RCV000122288 SCV000086515 not provided not specified 2013-09-19 no assertion provided reference population

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