ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.318C>A (p.Ile106=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003591277 SCV004305174 likely benign RYR1-related disorder 2023-02-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003516580 SCV004357261 likely benign Malignant hyperthermia, susceptibility to, 1 2022-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003516580 SCV004830237 likely benign Malignant hyperthermia, susceptibility to, 1 2023-11-02 criteria provided, single submitter clinical testing

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