ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6531+6G>T (rs774747998)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231449 SCV000289465 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000437140 SCV000519084 likely benign not specified 2017-10-26 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 RCV000437140 SCV000602085 uncertain significance not specified 2017-02-22 criteria provided, single submitter clinical testing
Counsyl RCV000231449 SCV000785962 uncertain significance Colorectal cancer, susceptibility to, 12 2018-01-22 criteria provided, single submitter clinical testing
Mendelics RCV000231449 SCV001138854 uncertain significance Colorectal cancer, susceptibility to, 12 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000858118 SCV001148869 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing

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