ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.11557G>A (p.Glu3853Lys) (rs145087576)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000209985 SCV000265741 uncertain significance Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
PreventionGenetics,PreventionGenetics RCV000721242 SCV000852259 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148827 SCV000190566 uncertain significance Muscular dystrophy and arthrogryposis 2014-06-01 no assertion criteria provided research

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.