ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) (rs145434723)

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 RCV000721487 SCV000341189 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000249519 SCV000721014 likely benign not specified 2017-07-11 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 RCV000383257 SCV000412019 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288869 SCV000412020 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343812 SCV000412021 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399586 SCV000412022 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000529434 SCV000659911 benign RYR1-Related Disorders 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249519 SCV000304905 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000721487 SCV000852560 likely benign not provided 2013-10-21 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.