ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)

gnomAD frequency: 0.00082  dbSNP: rs61731735
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 RCV000544436 SCV000634104 likely benign Familial infantile myasthenia 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001662543 SCV001875028 uncertain significance not provided 2021-07-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000544436 SCV003833226 uncertain significance Familial infantile myasthenia 2019-02-20 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.