ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3717+40A>G (rs397508595)

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 RCV000576505 SCV000677605 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Ambry Genetics RCV000623465 SCV000742529 pathogenic Inborn genetic diseases 2017-07-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727551 SCV000854777 likely pathogenic not provided 2017-08-31 criteria provided, single submitter clinical testing
CFTR-France RCV001009536 SCV001169631 pathogenic Cystic fibrosis; CFTR-related disorders 2018-03-26 criteria provided, single submitter curation the variant causes a phenotype but regarding our data, we can't formally attribute it to CF, CFTR-RD or both
Counsyl RCV000576505 SCV000794669 likely pathogenic Cystic fibrosis 2017-10-11 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.