ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5790T>C (p.Asp1930=)

gnomAD frequency: 0.00008  dbSNP: rs764867305
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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 RCV003053401 SCV002421135 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005428 SCV004824254 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-06-08 criteria provided, single submitter clinical testing

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