ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4980C>T (p.Asn1660=) (rs144338238)

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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 RCV000123749 SCV000212916 likely benign Hereditary cancer-predisposing syndrome 2014-06-23 criteria provided, single submitter clinical testing
Color RCV000123749 SCV000537419 likely benign Hereditary cancer-predisposing syndrome 2015-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000212026 SCV000167092 benign not specified 2014-01-24 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.
Integrated Genetics/Laboratory Corporation of America RCV000588006 SCV000694296 benign not provided 2017-07-21 criteria provided, single submitter clinical testing
Invitae RCV000122856 SCV000166114 likely benign Ataxia-telangiectasia syndrome 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000588006 SCV000805575 likely benign not provided 2017-08-24 criteria provided, single submitter clinical testing

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