ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2346A>G (p.Leu782=) (rs730881285)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000159608 SCV000214010 likely benign Hereditary cancer-predisposing syndrome 2015-01-09 criteria provided, single submitter clinical testing
Color RCV000159608 SCV000687375 likely benign Hereditary cancer-predisposing syndrome 2015-12-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727061 SCV000705274 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000211981 SCV000209592 benign not specified 2014-09-03 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.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000159608 SCV000679690 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV000205422 SCV000259923 likely benign Ataxia-telangiectasia syndrome 2018-01-05 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000159608 SCV000805212 likely benign Hereditary cancer-predisposing syndrome 2018-04-06 no assertion criteria provided clinical testing

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