ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)

gnomAD frequency: 0.00002  dbSNP: rs368032094
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044255 SCV001208042 likely benign Alagille syndrome due to a JAG1 point mutation 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481911 SCV002779227 uncertain significance Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2022-03-14 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.