ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) (rs369292604)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000318046 SCV000461109 uncertain significance Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372573 SCV000461110 uncertain significance Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713609 SCV000707797 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713609 SCV000844234 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000785031 SCV000923584 uncertain significance Spinocerebellar ataxia, autosomal recessive 8 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000785032 SCV000923585 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000785033 SCV000923586 uncertain significance Autosomal recessive myogenic arthrogryposis multiplex congenita 2019-01-01 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.