ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.291T>C (p.Tyr97=)

gnomAD frequency: 0.00001  dbSNP: rs199810632
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
Invitae RCV000876966 SCV001019618 benign Congenital myasthenic syndrome 15 2023-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411866 SCV004124088 benign not provided 2023-06-01 criteria provided, single submitter clinical testing ALG14: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003930445 SCV004755591 benign ALG14-related disorder 2019-06-06 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.