ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1832-7C>T

gnomAD frequency: 0.00001  dbSNP: rs1410724947
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002105132 SCV002396693 likely benign not provided 2023-05-23 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256918 SCV002531573 uncertain significance Xeroderma pigmentosum 2021-09-03 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.