ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn)

gnomAD frequency: 0.00001  dbSNP: rs768823146
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002026088 SCV002304550 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486707 SCV002777051 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 2022-02-12 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.