ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13566C>T (p.Pro4522=)

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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 RCV003824679 SCV004630643 likely benign RYR1-related disorder 2023-09-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004805092 SCV005426485 likely benign Malignant hyperthermia, susceptibility to, 1 2024-03-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004810552 SCV005432810 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7

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