ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10182G>A (p.Val3394=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV003516127 SCV004358179 likely benign Malignant hyperthermia, susceptibility to, 1 2023-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003757275 SCV004548707 likely benign RYR1-related disorder 2023-12-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003516127 SCV004830227 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-01 criteria provided, single submitter clinical testing

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