ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8355T>C (p.Asp2785=) (rs372834825)

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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 RCV000215084 SCV000278765 likely benign Hereditary cancer-predisposing syndrome 2015-09-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000428559 SCV000532305 likely benign not specified 2017-07-13 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 RCV000215084 SCV000537469 likely benign Hereditary cancer-predisposing syndrome 2015-11-08 criteria provided, single submitter clinical testing
Invitae RCV000463261 SCV000558415 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000428559 SCV000916587 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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