ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3477T>C (p.Ile1159=)

dbSNP: rs1345201599
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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 RCV001503882 SCV001708743 likely benign RYR1-related disorder 2020-10-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007220 SCV004837169 likely benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing

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