ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.-29C>G

gnomAD frequency: 0.00281  dbSNP: rs571026345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443220 SCV000521412 likely benign not specified 2017-07-19 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316547 SCV004017068 likely benign Colorectal cancer, susceptibility to, 12 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000443220 SCV005089843 likely benign not specified 2024-07-31 criteria provided, single submitter clinical testing

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