ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) (rs56815840)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710676 SCV000885039 benign not provided 2017-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131611 SCV000186627 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710676 SCV000840952 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Color RCV000131611 SCV000682338 benign Hereditary cancer-predisposing syndrome 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000120154 SCV000167098 benign not specified 2013-10-11 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.
Genetic Services Laboratory, University of Chicago RCV000120154 SCV000593488 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing
ITMI RCV000120154 SCV000084295 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000206294 SCV000262364 benign Ataxia-telangiectasia syndrome 2018-01-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120154 SCV000805599 benign not specified 2016-10-03 criteria provided, single submitter clinical testing

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