ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12624+15G>A

gnomAD frequency: 0.00001  dbSNP: rs1477430669
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003757074 SCV004548297 likely benign RYR1-related disorder 2023-06-12 criteria provided, single submitter clinical testing

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