ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1795-14C>T

gnomAD frequency: 0.00003  dbSNP: rs369023182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432871 SCV000521425 likely benign not specified 2015-11-23 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.
Counsyl RCV000663246 SCV000786460 likely benign Colorectal cancer, susceptibility to, 12 2018-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003541649 SCV002467388 likely benign not provided 2024-12-08 criteria provided, single submitter clinical testing

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