ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4731T>C (p.Thr1577=) (rs145236132)

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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 RCV000164525 SCV000215179 likely benign Hereditary cancer-predisposing syndrome 2014-06-12 criteria provided, single submitter clinical testing
Invitae RCV001086267 SCV000252963 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000437434 SCV000512164 likely benign not specified 2018-02-02 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 RCV000164525 SCV000682218 likely benign Hereditary cancer-predisposing syndrome 2015-11-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000195432 SCV001148427 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000437434 SCV001370587 likely benign not specified 2020-05-30 criteria provided, single submitter clinical testing

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