ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)

gnomAD frequency: 0.00102  dbSNP: rs138039375
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
Preventiongenetics, part of Exact Sciences RCV000248584 SCV000315117 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725762 SCV000339244 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
Invitae RCV001087053 SCV001016421 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-11-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725762 SCV001476996 likely benign not provided 2020-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000725762 SCV001811640 uncertain significance not provided 2020-12-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.