ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)

dbSNP: rs1555793251
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661972 SCV000784303 uncertain significance Central core myopathy 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661973 SCV000784304 uncertain significance Congenital multicore myopathy with external ophthalmoplegia 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661974 SCV000784305 uncertain significance Congenital myopathy with fiber type disproportion 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661975 SCV000784306 uncertain significance Multiminicore myopathy 2018-03-05 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.