ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4481T>C (p.Val1494Ala) (rs767928113)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000369799 SCV000412173 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270553 SCV000412174 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306888 SCV000412175 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364887 SCV000412176 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000369799 SCV000920384 likely pathogenic Myopathy, Central Core 2019-01-01 criteria provided, single submitter research The same individual also harbours another variant g.[38979895_38979897delGAG] in the same gene along with this variant as compound heterozygote

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.