ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6675C>T (p.Arg2225=) (rs149973644)

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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 RCV000565304 SCV000671241 likely benign Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000425210 SCV000520975 likely benign not specified 2017-12-18 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 RCV000204754 SCV000261717 benign Colorectal cancer, susceptibility to, 12 2018-01-24 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679670 SCV000806847 likely benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000425210 SCV000602087 benign not specified 2017-06-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679670 SCV000888570 benign not provided 2017-06-09 criteria provided, single submitter clinical testing

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