ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1734C>T (p.Gly578=)

dbSNP: rs1293284420
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549189 SCV000646504 likely benign Colorectal cancer, susceptibility to, 10 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404493 SCV002713787 likely benign Hereditary cancer-predisposing syndrome 2022-10-05 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321658 SCV004027004 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.