ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14817C>T (p.Asp4939=)

gnomAD frequency: 0.00002  dbSNP: rs193922895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592147 SCV000701985 uncertain significance not provided 2016-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001394417 SCV001596101 likely benign RYR1-related disorder 2025-01-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002454 SCV004830863 likely benign Malignant hyperthermia, susceptibility to, 1 2024-07-29 criteria provided, single submitter clinical testing

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