ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) (rs78488552)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000122293 SCV000229532 benign not specified 2017-03-08 criteria provided, single submitter clinical testing
Invitae RCV000231281 SCV000285569 benign Werner syndrome 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000231281 SCV000473354 uncertain significance Werner syndrome 2018-01-13 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.
Mendelics RCV000231281 SCV001137603 likely benign Werner syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000858031 SCV001155404 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
ITMI RCV000122293 SCV000086520 not provided not specified 2013-09-19 no assertion provided reference population
GeneDx RCV000858031 SCV001795855 likely benign not provided 2021-04-20 no assertion criteria provided clinical testing This variant is associated with the following publications: (PMID: 23891399, 26546047, 27153395, 24728327)

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