ClinVar Miner

Submissions for variant NC_000002.11:g.44559541_44571008del

Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000662355 SCV000784718 pathogenic Myasthenic syndrome, congenital, 22 2018-07-11 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.