ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2232A>C (p.Pro744=)

gnomAD frequency: 0.00221  dbSNP: rs189619298
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861526 SCV001001870 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000861526 SCV002496278 likely benign not provided 2019-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245713 SCV002513998 benign Xeroderma pigmentosum, group C 2021-12-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259037 SCV002537499 benign Xeroderma pigmentosum 2020-10-29 criteria provided, single submitter curation

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.