ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)

gnomAD frequency: 0.00006  dbSNP: rs138007561
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729669 SCV000857347 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
Invitae RCV001226725 SCV001399048 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485869 SCV002775194 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 2022-02-03 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000729669 SCV000920749 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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.