ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10032C>T (p.Pro3344=)

gnomAD frequency: 0.00007  dbSNP: rs376687300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733044 SCV000861060 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078662 SCV001005772 likely benign RYR1-related disorder 2025-01-23 criteria provided, single submitter clinical testing

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