ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1290C>T (p.Pro430=)

gnomAD frequency: 0.00001  dbSNP: rs748936965
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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 RCV002088589 SCV002388089 likely benign RYR1-related disorder 2023-12-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005344 SCV004826821 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing

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