ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4071T>C (p.Ser1357=) (rs767516955)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215757 SCV000274343 likely benign Hereditary cancer-predisposing syndrome 2015-03-05 criteria provided, single submitter clinical testing
Color RCV000215757 SCV000682182 likely benign Hereditary cancer-predisposing syndrome 2017-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000599640 SCV000729656 likely benign not specified 2017-03-31 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.
Invitae RCV000548608 SCV000622470 likely benign Ataxia-telangiectasia syndrome 2017-09-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679119 SCV000805553 likely benign not provided 2017-11-10 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000215757 SCV000787862 likely benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing

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