ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.858C>T (p.Thr286=)

gnomAD frequency: 0.00024  dbSNP: rs200423662
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 RCV000900044 SCV001044343 likely benign Familial infantile myasthenia 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000900044 SCV003833242 uncertain significance Familial infantile myasthenia 2019-05-08 criteria provided, single submitter 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.