ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.164+1G>T (rs397508243)

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 RCV000576651 SCV000677597 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000576651 SCV000796986 pathogenic Cystic fibrosis 2018-01-05 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576651 SCV000679329 not provided Cystic fibrosis no assertion provided literature only

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.