ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) (rs140768346)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227936 SCV000285548 benign Werner syndrome 2020-12-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000122285 SCV000342314 likely benign not specified 2016-05-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227936 SCV000473340 uncertain significance Werner syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000857886 SCV001155403 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
ITMI RCV000122285 SCV000086510 not provided not specified 2013-09-19 no assertion provided reference population

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