ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) (rs2229020)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120133 SCV000167082 benign not specified 2013-12-30 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 RCV000128988 SCV000172879 benign Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing
Invitae RCV000204666 SCV000261654 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224651 SCV000281587 likely benign not provided 2016-04-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120133 SCV000339808 benign not specified 2016-02-29 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000128988 SCV000576460 likely benign Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing
Color RCV000128988 SCV000682125 benign Hereditary cancer-predisposing syndrome 2015-03-05 criteria provided, single submitter clinical testing
Counsyl RCV000204666 SCV000799196 likely benign Ataxia-telangiectasia syndrome 2018-04-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120133 SCV000805539 benign not specified 2016-12-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204666 SCV001260526 likely benign Ataxia-telangiectasia syndrome 2017-04-27 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 RCV000120133 SCV000084272 not provided not specified 2013-09-19 no assertion provided reference population

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