ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3275+16A>G

gnomAD frequency: 0.00004  dbSNP: rs5744858
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411635 SCV000488907 benign Colorectal cancer, susceptibility to, 12 2016-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000602196 SCV000730417 likely benign not specified 2017-09-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003657626 SCV002339196 benign not provided 2025-01-14 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000602196 SCV004027337 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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