ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.355+4G>C

gnomAD frequency: 0.00156  dbSNP: rs145764920
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233017 SCV000285564 benign Werner syndrome 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000233017 SCV000473312 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.
Eurofins Ntd Llc (ga) RCV000597305 SCV000706505 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000233017 SCV001481519 uncertain significance Werner syndrome 2020-12-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000597305 SCV001767076 likely benign not provided 2019-11-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818577 SCV002071489 likely benign not specified 2021-01-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000597305 SCV001978610 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000597305 SCV001980232 likely benign not provided no assertion criteria provided clinical testing

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