ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6396A>G (p.Leu2132=) (rs370537345)

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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 RCV000163612 SCV000214179 likely benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
Invitae RCV000196587 SCV000252972 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000439854 SCV000515515 likely benign not specified 2017-04-18 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 RCV000163612 SCV000682332 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000439854 SCV000694322 likely benign not specified 2019-08-20 criteria provided, single submitter clinical testing
Counsyl RCV000196587 SCV000793666 likely benign Ataxia-telangiectasia syndrome 2017-08-22 criteria provided, single submitter clinical testing

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