ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) (rs200719359)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514389 SCV000609801 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000514389 SCV000232661 uncertain significance not provided 2014-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000514389 SCV000969636 likely benign not provided 2018-04-10 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.
Illumina Clinical Services Laboratory,Illumina RCV000377636 SCV000417054 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000536300 SCV000640813 benign Nemaline myopathy 2 2017-11-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245711 SCV000307363 likely benign not specified 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.