ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4083C>T (p.Ser1361=)

gnomAD frequency: 0.28751  dbSNP: rs1801196
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000118879 SCV000305356 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368541 SCV000473358 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000836844 SCV000978692 benign not provided 2018-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000368541 SCV001728755 benign Werner syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000368541 SCV002514999 benign Werner syndrome 2021-12-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315694 SCV004016231 benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118879 SCV000153548 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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