ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1446T>A (p.Ile482=)

dbSNP: rs914422460
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
Eurofins Ntd Llc (ga) RCV000733077 SCV000861096 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192432 SCV001360546 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001592936 SCV001822054 uncertain significance Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001592936 SCV004344682 likely benign Cystic fibrosis 2024-03-19 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.