ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6234C>T (p.Ser2078=) (rs569483748)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163200 SCV000213722 likely benign Hereditary cancer-predisposing syndrome 2015-01-21 criteria provided, single submitter clinical testing
Invitae RCV000204643 SCV000260681 likely benign Ataxia-telangiectasia syndrome 2017-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000422005 SCV000512174 benign not specified 2015-03-19 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.
Color RCV000163200 SCV000682315 likely benign Hereditary cancer-predisposing syndrome 2016-07-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726706 SCV000702269 uncertain significance not provided 2016-10-27 criteria provided, single submitter clinical testing

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