ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) (rs142614369)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228973 SCV000285571 benign Werner syndrome 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228973 SCV000473356 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727484 SCV000708978 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000228973 SCV000897450 uncertain significance Werner syndrome 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000228973 SCV001481227 uncertain significance Werner syndrome 2020-01-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
ITMI RCV000122294 SCV000086521 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000727484 SCV001808775 likely benign not provided no assertion criteria provided clinical testing

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