ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4269C>T (p.Pro1423=) (rs2229141)

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
Illumina Clinical Services Laboratory,Illumina RCV000333270 SCV000412141 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387872 SCV000412142 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288850 SCV000412143 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347977 SCV000412144 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000534736 SCV000659937 likely benign RYR1-Related Disorders 2017-12-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721530 SCV000852613 likely benign not provided 2017-10-20 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.