ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2916+27del

dbSNP: rs3215563
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
PreventionGenetics, part of Exact Sciences RCV000242886 SCV000303023 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001682964 SCV001896164 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730606 SCV001980830 benign Deafness, congenital heart defects, and posterior embryotoxon 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730605 SCV001980831 benign Alagille syndrome due to a JAG1 point mutation 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730604 SCV001980832 benign Tetralogy of Fallot 2021-08-19 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.