ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14256A>C (p.Thr4752=) (rs1468571)

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 RCV000079131 SCV000111000 benign not specified 2014-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000079131 SCV000519608 benign not specified 2016-02-17 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 RCV000079131 SCV000194807 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373066 SCV000413012 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262054 SCV000413013 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319574 SCV000413014 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385820 SCV000413015 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119506 SCV000154413 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079131 SCV000304839 benign not specified 2018-04-03 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.