ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.125A>C (p.Glu42Ala)

gnomAD frequency: 0.00015  dbSNP: rs757604648
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 RCV000953942 SCV001100542 likely benign Congenital myasthenic syndrome 8 2023-08-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935824 SCV004755213 benign AGRN-related condition 2020-01-20 criteria provided, single submitter clinical testing This variant is classified as 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.