ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3348T>C (p.Ala1116=)

dbSNP: rs764397758
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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 RCV001402953 SCV001604813 likely benign RYR1-related disorder 2024-01-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006893 SCV004832570 likely benign Malignant hyperthermia, susceptibility to, 1 2023-06-26 criteria provided, single submitter clinical testing

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