ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) (rs641252)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120120 SCV000149063 benign not specified 2015-05-26 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.
Ambry Genetics RCV000115154 SCV000186229 benign Hereditary cancer-predisposing syndrome 2018-08-30 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;Co-occurence with mutation in same gene (phase unknown)
Invitae RCV000167934 SCV000218582 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120120 SCV000226196 benign not specified 2015-01-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000120120 SCV000593478 likely benign not specified 2016-11-23 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000115154 SCV000679691 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Color RCV000115154 SCV000682049 benign Hereditary cancer-predisposing syndrome 2015-10-23 criteria provided, single submitter clinical testing
Counsyl RCV000167934 SCV000792122 likely benign Ataxia-telangiectasia syndrome 2017-06-16 criteria provided, single submitter clinical testing
Mendelics RCV000167934 SCV001138472 likely benign Ataxia-telangiectasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000167934 SCV001262549 likely benign Ataxia-telangiectasia syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ITMI RCV000120120 SCV000084258 not provided not specified 2013-09-19 no assertion provided reference population
True Health Diagnostics RCV000115154 SCV000787851 likely benign Hereditary cancer-predisposing syndrome 2017-10-26 no assertion criteria provided clinical testing

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