ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.612C>T (p.His204=)

gnomAD frequency: 0.00083  dbSNP: rs147881471
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083412 SCV000287642 benign Colorectal cancer, susceptibility to, 10 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000759244 SCV000520800 likely benign not provided 2023-10-18 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV000565381 SCV000670926 likely benign Hereditary cancer-predisposing syndrome 2015-08-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000422949 SCV000859727 likely benign not specified 2018-02-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759244 SCV000888471 benign not provided 2018-05-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000422949 SCV002069442 likely benign not specified 2022-01-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565381 SCV002534692 likely benign Hereditary cancer-predisposing syndrome 2021-03-18 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000422949 SCV004026987 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000422949 SCV004029435 benign not specified 2023-07-13 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.