ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) (rs11574410)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000122300 SCV000229774 benign not specified 2014-12-30 criteria provided, single submitter clinical testing
Invitae RCV000988046 SCV000285575 benign Werner syndrome 2020-12-08 criteria provided, single submitter clinical testing
Mendelics RCV000988046 SCV001137606 benign Werner syndrome 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000988046 SCV001325808 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ITMI RCV000122300 SCV000086528 not provided not specified 2013-09-19 no assertion provided reference population

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