ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.3218+17G>A

gnomAD frequency: 0.00061  dbSNP: rs375490101
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410815 SCV000489012 likely benign Colorectal cancer, susceptibility to, 10 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000418981 SCV000521441 likely benign not specified 2017-08-28 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.
Invitae RCV000410815 SCV001728088 benign Colorectal cancer, susceptibility to, 10 2024-01-31 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000410815 SCV004016667 likely benign Colorectal cancer, susceptibility to, 10 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932529 SCV004752466 likely benign POLD1-related condition 2021-11-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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