ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)

dbSNP: rs146514343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332541 SCV001524899 likely pathogenic Congenital multicore myopathy with external ophthalmoplegia 2020-07-09 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989686 SCV004806615 pathogenic Central core myopathy 2024-03-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005141 SCV004827140 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-06-26 criteria provided, single submitter clinical testing

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