ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys)

gnomAD frequency: 0.00014  dbSNP: rs200227737
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
GeneDx RCV001696920 SCV000590776 likely benign not provided 2018-06-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000498912 SCV000859520 likely benign not specified 2018-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851388 SCV002209897 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551623 SCV004757070 likely benign JAG1-related disorder 2024-02-19 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.