ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12984A>G (p.Lys4328=)

gnomAD frequency: 0.00255  dbSNP: rs151314114
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) RCV000304318 SCV000338067 benign not specified 2016-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000864846 SCV001005710 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-12-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000304318 SCV001474874 benign not specified 2024-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714632 SCV005289165 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920092 SCV004729461 benign SYNE2-related disorder 2019-02-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.