ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4656C>T (p.Phe1552=)

dbSNP: rs1401779403
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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 RCV002168144 SCV002348213 likely benign RYR1-related disorder 2023-02-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011208 SCV004834956 likely benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing

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