ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.1415+97T>G

gnomAD frequency: 0.72417  dbSNP: rs3810561
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
Genome-Nilou Lab RCV001543227 SCV001761754 benign Corneal dystrophy-perceptive deafness syndrome 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543228 SCV001761755 benign Congenital hereditary endothelial dystrophy of cornea 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717817 SCV005309371 benign not provided criteria provided, single submitter not provided

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.