ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3435C>T (p.Gly1145=)

gnomAD frequency: 0.00001  dbSNP: rs759402075
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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 RCV002919163 SCV003263562 likely benign RYR1-related disorder 2024-08-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV005403251 SCV006064283 likely benign Malignant hyperthermia, susceptibility to, 1 2022-12-07 criteria provided, single submitter clinical testing

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