ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.561C>T (p.Tyr187=) (rs143938822)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000988956 SCV000289432 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000432221 SCV000523821 likely benign not specified 2017-06-21 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 RCV000432221 SCV000602072 likely benign not specified 2016-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561519 SCV000671286 likely benign Hereditary cancer-predisposing syndrome 2015-06-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679653 SCV000806813 likely benign not provided 2017-11-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679653 SCV000889770 benign not provided 2018-02-21 criteria provided, single submitter clinical testing
Mendelics RCV000988956 SCV001138902 likely benign Colorectal cancer, susceptibility to, 12 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000679653 SCV001148913 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing

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