ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14058C>G (p.Gly4686=)

gnomAD frequency: 0.00003  dbSNP: rs886038322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243840 SCV000304835 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001459001 SCV001662833 likely benign RYR1-related disorder 2023-05-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004804971 SCV005426508 likely benign Malignant hyperthermia, susceptibility to, 1 2024-08-06 criteria provided, single submitter clinical testing

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