ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5370+9G>A

gnomAD frequency: 0.00006  dbSNP: rs774988688
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 RCV002539096 SCV001012579 likely benign Congenital myasthenic syndrome 8 2023-08-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965742 SCV004784726 likely benign AGRN-related condition 2023-04-13 criteria provided, single submitter 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.