ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter)

dbSNP: rs397508343
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
CFTR2 RCV000576466 SCV000677622 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Mendelics RCV000576466 SCV000886349 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826632 SCV002080712 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided 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.