ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3154-4G>A (rs199543313)

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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 RCV000131267 SCV000186235 likely benign Hereditary cancer-predisposing syndrome 2017-09-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,In silico models in agreement (benign)
Color RCV000131267 SCV000537432 likely benign Hereditary cancer-predisposing syndrome 2015-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000211993 SCV000209596 benign not specified 2014-08-07 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 RCV000588159 SCV000694250 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000196872 SCV000252955 likely benign Ataxia-telangiectasia syndrome 2018-01-04 criteria provided, single submitter clinical testing

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