ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) (rs149146258)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178473 SCV000230556 likely benign not specified 2015-11-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309218 SCV000461455 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362586 SCV000461456 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000178473 SCV000515922 likely benign not specified 2017-09-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000178473 SCV000597343 likely benign not specified 2016-03-21 criteria provided, single submitter clinical testing
Invitae RCV000756737 SCV000649196 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000178473 SCV000884632 likely benign not specified 2019-06-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000756737 SCV001145983 benign not provided 2019-03-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756737 SCV001154954 uncertain significance not provided 2018-12-01 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.