ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10687-10C>T (rs77592501)

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 RCV000079117 SCV000110986 benign not specified 2014-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079117 SCV000194780 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079117 SCV000269768 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.10687-10C>T in intron 72 of RYR1: This variant is not expected to have clinica l significance because it has been identified in 4.8% (416/8600) of European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs77592501).
PreventionGenetics,PreventionGenetics RCV000079117 SCV000304757 benign not specified 2018-03-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407269 SCV000412752 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312153 SCV000412753 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366788 SCV000412754 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405132 SCV000412755 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079117 SCV000519807 benign not specified 2016-02-08 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.

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.