ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9216C>A (p.Ala3072=)

dbSNP: rs1361441570
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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 RCV002047416 SCV002109287 likely benign RYR1-related disorder 2023-05-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009190 SCV004830161 likely benign Malignant hyperthermia, susceptibility to, 1 2024-03-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546677 SCV005042532 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7

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