ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.47-8dup

dbSNP: rs550750896
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
Illumina Laboratory Services, Illumina RCV000367800 SCV000403895 uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876861 SCV001019493 likely benign Congenital myasthenic syndrome 4A 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276706 SCV001463218 uncertain significance Congenital myasthenic syndrome 2020-01-17 no assertion criteria provided clinical testing

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.