ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.779G>A (p.Arg260Gln) (rs5744752)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000760041 SCV000261346 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000433874 SCV000521986 likely benign not specified 2018-03-16 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000433874 SCV000602100 likely benign not specified 2017-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567672 SCV000671227 likely benign Hereditary cancer-predisposing syndrome 2015-07-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
PreventionGenetics,PreventionGenetics RCV000433874 SCV000806855 benign not specified 2017-09-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760041 SCV000889792 benign not provided 2018-05-23 criteria provided, single submitter clinical testing

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