ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5174-17G>A

gnomAD frequency: 0.00001  dbSNP: rs201254290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606101 SCV000722561 likely benign not specified 2017-08-30 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 RCV000662960 SCV000785931 likely benign Colorectal cancer, susceptibility to, 12 2018-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767589 SCV002328670 benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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