ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4185C>T (p.Val1395=)

gnomAD frequency: 0.00009  dbSNP: rs761955179
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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 RCV001466620 SCV001670625 likely benign RYR1-related disorder 2024-10-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000865265 SCV003812509 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002959 SCV004820339 likely benign Malignant hyperthermia, susceptibility to, 1 2024-01-11 criteria provided, single submitter clinical testing

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