ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.54G>A (p.Glu18=)

dbSNP: rs1389217484
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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 RCV001475428 SCV001679618 likely benign RYR1-related disorder 2023-11-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007132 SCV004836089 likely benign Malignant hyperthermia, susceptibility to, 1 2023-11-20 criteria provided, single submitter clinical testing

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