ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.335G>A (p.Gly112Glu)

dbSNP: rs2116959049
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
Athena Diagnostics RCV001665520 SCV001880124 uncertain significance not provided 2020-12-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136124 SCV003819908 uncertain significance Myoclonic dystonia 11 2022-12-21 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.