ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3379-17G>A

gnomAD frequency: 0.00002  dbSNP: rs907214942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606070 SCV000730818 likely benign not specified 2017-06-10 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 RCV000662798 SCV000785616 likely benign Colorectal cancer, susceptibility to, 12 2017-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003541557 SCV002371299 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing

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