ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.63-14C>T

gnomAD frequency: 0.00048  dbSNP: rs373998767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409530 SCV000489532 likely benign Colorectal cancer, susceptibility to, 12 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000434371 SCV000524568 likely benign not specified 2017-08-08 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 RCV003657868 SCV002453378 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000409530 SCV004017086 likely benign Colorectal cancer, susceptibility to, 12 2023-07-07 criteria provided, single submitter clinical testing

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