ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1627T>G (p.Leu543Val)

dbSNP: rs946863283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791180 SCV000930461 uncertain significance Myopathy, RYR1-associated 2019-04-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001553 SCV004825004 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-08-15 criteria provided, single submitter clinical testing

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