ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.208G>A (p.Val70Ile)

dbSNP: rs147911699
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082452 SCV000287551 likely benign Colorectal cancer, susceptibility to, 10 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000657092 SCV000568934 likely benign not provided 2019-12-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000481096 SCV000601902 likely benign not specified 2016-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529393 SCV000806487 likely benign POLD1-related disorder 2022-02-15 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).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000481096 SCV002761041 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.