ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1926C>T (p.Pro642=) (rs779747873)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570150 SCV000671645 likely benign Hereditary cancer-predisposing syndrome 2016-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
GeneDx RCV000443923 SCV000532000 likely benign not specified 2016-09-23 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 RCV000557511 SCV000653098 likely benign Colorectal cancer, susceptibility to, 12 2017-04-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759266 SCV000888498 likely benign not provided 2018-06-20 criteria provided, single submitter clinical testing

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