ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.11141+7A>G (rs78350770)

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
Genetic Services Laboratory, University of Chicago RCV000147402 SCV000194785 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147402 SCV000232430 benign not specified 2014-11-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147402 SCV000304770 benign not specified 2017-09-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259363 SCV000412781 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317061 SCV000412782 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387865 SCV000412783 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274226 SCV000412784 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000147402 SCV000525197 benign not specified 2016-10-21 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.
Invitae RCV000556085 SCV000659761 benign not provided 2019-03-01 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.