ClinVar Miner

Submissions for variant NM_006502.3(POLH):c.1977G>A (p.Leu659=)

dbSNP: rs1768186117
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002259288 SCV002536992 likely benign Xeroderma pigmentosum 2021-02-24 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003774798 SCV004687425 likely benign not provided 2023-03-07 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.