ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.5496T>C (p.Leu1832=) (rs147543146)

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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 RCV000568242 SCV000671284 likely benign Hereditary cancer-predisposing syndrome 2015-06-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000419491 SCV000518252 likely benign not specified 2017-09-19 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 RCV000228560 SCV000289424 benign Colorectal cancer, susceptibility to, 12 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000419491 SCV000806805 benign not specified 2017-08-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000419491 SCV000602068 likely benign not specified 2017-03-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759308 SCV000888555 benign not provided 2018-07-16 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000568242 SCV000886714 likely benign Hereditary cancer-predisposing syndrome 2018-10-04 no assertion criteria provided clinical testing

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