ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5097C>T (p.Asp1699=)

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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 RCV003087874 SCV003474560 likely benign RYR1-related disorder 2023-11-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009393 SCV004837038 likely benign Malignant hyperthermia, susceptibility to, 1 2023-10-06 criteria provided, single submitter clinical testing

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