ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10627-4C>T

gnomAD frequency: 0.00001  dbSNP: rs1489667781
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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 RCV001456841 SCV001660631 likely benign RYR1-related disorder 2023-12-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007062 SCV004834001 likely benign Malignant hyperthermia, susceptibility to, 1 2024-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV001456841 SCV004768036 likely benign RYR1-related disorder 2019-07-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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