ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.971-4G>A

gnomAD frequency: 0.00152  dbSNP: rs200144991
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081744 SCV000287660 benign Colorectal cancer, susceptibility to, 10 2021-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000433707 SCV000520741 likely benign not specified 2017-12-26 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.
Genetic Services Laboratory,University of Chicago RCV000433707 SCV000596492 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000433707 SCV000601967 likely benign not specified 2017-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572949 SCV000670956 likely benign Hereditary cancer-predisposing syndrome 2018-07-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
PreventionGenetics,PreventionGenetics RCV000433707 SCV000806573 benign not specified 2017-11-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759253 SCV000888481 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433707 SCV002511647 benign not specified 2022-04-19 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000572949 SCV002534718 benign Hereditary cancer-predisposing syndrome 2020-12-07 criteria provided, single submitter curation

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