ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12411C>T (p.His4137=)

gnomAD frequency: 0.00039  dbSNP: rs751325537
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000324286 SCV000338256 benign not specified 2015-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000713593 SCV000531971 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084665 SCV000649026 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-12-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713593 SCV000844218 benign not provided 2017-09-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502128 SCV002806674 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 2021-11-22 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.