ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5811+13C>T

gnomAD frequency: 0.00190  dbSNP: rs150195182
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411975 SCV000489697 likely benign Colorectal cancer, susceptibility to, 12 2016-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000426963 SCV000521367 likely benign not specified 2017-08-01 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.
PreventionGenetics, part of Exact Sciences RCV000426963 SCV000806819 benign not specified 2017-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766142 SCV002477404 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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