ClinVar Miner

Submissions for variant NM_005984.5(SLC25A1):c.205G>T (p.Asp69Tyr)

dbSNP: rs2083996886
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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV001270485 SCV002574736 uncertain significance Myasthenic syndrome, congenital, 23, presynaptic 2022-06-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001270485 SCV004809683 uncertain significance Myasthenic syndrome, congenital, 23, presynaptic 2024-04-04 criteria provided, single submitter clinical testing
OMIM RCV001270485 SCV001450784 pathogenic Myasthenic syndrome, congenital, 23, presynaptic 2020-12-15 no assertion criteria provided literature only

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.