ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3351C>T (p.Asp1117=)

gnomAD frequency: 0.00009  dbSNP: rs151182947
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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 RCV001495658 SCV001700342 likely benign RYR1-related disorder 2024-01-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007192 SCV004821517 likely benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing

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