ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1470C>T (p.Asp490=) (rs5744777)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575079 SCV000671234 benign Hereditary cancer-predisposing syndrome 2015-06-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Counsyl RCV000205358 SCV000488550 benign Colorectal cancer, susceptibility to, 12 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000437049 SCV000518005 likely benign not specified 2017-12-12 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.
Invitae RCV000205358 SCV000261655 benign Colorectal cancer, susceptibility to, 12 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000437049 SCV000806723 benign not specified 2016-10-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000437049 SCV000601981 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759975 SCV000889708 benign not provided 2018-05-22 criteria provided, single submitter clinical testing

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