ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) (rs138628147)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000329344 SCV000338033 benign not specified 2015-12-08 criteria provided, single submitter clinical testing
Invitae RCV000549032 SCV000649103 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2020-10-29 criteria provided, single submitter clinical testing
GeneDx RCV001718577 SCV000714946 likely benign not provided 2019-11-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000329344 SCV001474838 benign not specified 2020-05-29 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.