ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8010G>A (p.Glu2670=)

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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 RCV003756903 SCV004529430 likely benign RYR1-related disorder 2023-06-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005870 SCV004831970 likely benign Malignant hyperthermia, susceptibility to, 1 2023-06-08 criteria provided, single submitter clinical testing

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