ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp)

gnomAD frequency: 0.00024  dbSNP: rs75652750
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597293 SCV000706857 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001401841 SCV001603675 likely benign Alagille syndrome due to a JAG1 point mutation 2023-09-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553330 SCV004772683 likely benign JAG1-related disorder 2022-02-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.