ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1905-35T>C

gnomAD frequency: 0.36580  dbSNP: rs1799799
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
Genome-Nilou Lab RCV001661295 SCV001876120 benign Fanconi anemia complementation group Q 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001661294 SCV001876121 benign Xeroderma pigmentosum, group F 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001661293 SCV001876123 benign XFE progeroid syndrome 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001676070 SCV001895351 benign not provided 2019-01-10 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.