ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5976A>G (p.Ala1992=)

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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 RCV003878354 SCV004677960 likely benign RYR1-related disorder 2023-12-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006158 SCV004833332 likely benign Malignant hyperthermia, susceptibility to, 1 2023-07-10 criteria provided, single submitter clinical testing

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