ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6100C>A (p.Arg2034=) (rs532480170)

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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 RCV000215954 SCV000278402 likely benign Hereditary cancer-predisposing syndrome 2015-09-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000418769 SCV000523808 likely benign not specified 2018-01-04 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 RCV000536264 SCV000622639 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000215954 SCV000687674 likely benign Hereditary cancer-predisposing syndrome 2017-07-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000418769 SCV000694317 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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