ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.396C>T (p.Phe132=)

gnomAD frequency: 0.00005  dbSNP: rs376494617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001394361 SCV001596044 likely benign RYR1-related disorder 2024-07-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002902 SCV004819176 likely benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV000850318 SCV000992493 uncertain significance Myopathy no assertion criteria provided clinical testing

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