ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2361-4C>G

gnomAD frequency: 0.00001  dbSNP: rs753918895
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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 RCV002209854 SCV002361332 likely benign RYR1-related disorder 2024-11-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134381 SCV003812465 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing

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