ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.636C>T (p.Phe212=)

gnomAD frequency: 0.00002  dbSNP: rs781279190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002130798 SCV002445341 likely benign RYR1-related disorder 2024-01-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005463 SCV004824822 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing

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