ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.*1327G>A

gnomAD frequency: 0.01454  dbSNP: rs117289374
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
Illumina Laboratory Services, Illumina RCV000311169 SCV000362665 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370443 SCV000362666 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275700 SCV000362667 likely benign COFS syndrome 2016-06-14 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.