ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10113G>A (p.Lys3371=)

gnomAD frequency: 0.00001  dbSNP: rs757539208
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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 RCV001461070 SCV001664954 likely benign RYR1-related disorder 2023-10-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007077 SCV004825255 likely benign Malignant hyperthermia, susceptibility to, 1 2024-04-16 criteria provided, single submitter clinical testing

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