ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1007T>A (p.Ile336Lys) (rs397508139)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056337 SCV000071505 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000056337 SCV000220695 likely pathogenic Cystic fibrosis 2014-09-16 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593715 SCV000700803 pathogenic not provided 2017-03-15 criteria provided, single submitter clinical testing
Mendelics RCV000056337 SCV000886154 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000593715 SCV000888064 pathogenic not provided 2018-08-09 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.