ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.4602C>T (p.His1534=) (rs749126952)

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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 RCV000568518 SCV000671559 likely benign Hereditary cancer-predisposing syndrome 2016-03-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000508285 SCV000728003 likely benign not specified 2018-02-23 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 RCV000546082 SCV000653303 likely benign Colorectal cancer, susceptibility to, 12 2017-06-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508285 SCV000602053 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing

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