ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7794G>A (p.Ala2598=)

dbSNP: rs576856474
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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 RCV001493942 SCV001698587 likely benign RYR1-related disorder 2023-12-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007182 SCV004828053 likely benign Malignant hyperthermia, susceptibility to, 1 2024-07-29 criteria provided, single submitter clinical testing

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