ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12522C>T (p.Arg4174=)

gnomAD frequency: 0.00001  dbSNP: rs770889425
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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 RCV001417260 SCV001619458 likely benign RYR1-related disorder 2024-03-12 criteria provided, single submitter clinical testing

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