ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.5124C>T (p.Phe1708=) (rs114891564)

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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 RCV000566689 SCV000671244 likely benign Hereditary cancer-predisposing syndrome 2015-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000422794 SCV000520986 likely benign not specified 2018-01-25 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 RCV000232745 SCV000289414 benign Colorectal cancer, susceptibility to, 12 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000422794 SCV000806795 benign not specified 2018-01-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000422794 SCV000602061 likely benign not specified 2017-02-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760023 SCV000889766 benign not provided 2018-04-17 criteria provided, single submitter clinical testing

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