ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6597C>T (p.Ile2199=) (rs147611144)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081097 SCV000289468 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000434881 SCV000522390 likely benign not specified 2018-01-09 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.
Ambry Genetics RCV000573068 SCV000671328 likely benign Hereditary cancer-predisposing syndrome 2015-09-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000232057 SCV001134752 benign not provided 2018-12-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000232057 SCV001148868 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing

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