ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5409G>T (p.Pro1803=)

dbSNP: rs747211958
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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 RCV002175551 SCV002343167 likely benign RYR1-related disorder 2023-10-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011218 SCV004824404 likely benign Malignant hyperthermia, susceptibility to, 1 2023-06-26 criteria provided, single submitter clinical testing

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