ClinVar Miner

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

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128988 SCV000172879 benign Hereditary cancer-predisposing syndrome 2014-11-20 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.
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120133 SCV000339808 benign not specified 2016-02-29 criteria provided, single submitter clinical testing
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.
ITMI RCV000120133 SCV000084272 not provided not specified 2013-09-19 no assertion provided reference population
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
Invitae RCV000204666 SCV000261654 benign Ataxia-telangiectasia syndrome 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120133 SCV000805539 benign not specified 2016-12-12 criteria provided, single submitter clinical testing

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