ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1408C>T (p.Leu470=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003222985 SCV003918116 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003779787 SCV004686023 likely benign RYR1-related disorder 2023-12-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009677 SCV004821441 likely benign Malignant hyperthermia, susceptibility to, 1 2023-08-15 criteria provided, single submitter clinical testing

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