ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18621G>A (p.Thr6207=)

gnomAD frequency: 0.00002  dbSNP: rs754877966
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
GeneDx RCV001697502 SCV000721306 likely benign not provided 2020-10-28 criteria provided, single submitter clinical testing
Invitae RCV002529635 SCV003475135 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-14 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.