ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8391T>C (p.Ser2797=) (rs566485657)

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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 RCV000573042 SCV000660465 likely benign Hereditary cancer-predisposing syndrome 2015-05-15 criteria provided, single submitter clinical testing
Color RCV000573042 SCV000682480 likely benign Hereditary cancer-predisposing syndrome 2016-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000423464 SCV000519054 likely benign not specified 2017-11-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000233368 SCV000367069 uncertain significance Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233368 SCV000283080 likely benign Ataxia-telangiectasia syndrome 2017-12-19 criteria provided, single submitter clinical testing

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