ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11127G>A (p.Glu3709=)

gnomAD frequency: 0.00001  dbSNP: rs777292211
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005092591 SCV001621981 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-08-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524597 SCV001734518 benign Cardiomyopathy 2020-02-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001419721 SCV004821697 benign Catecholaminergic polymorphic ventricular tachycardia 2023-06-15 criteria provided, single submitter clinical testing

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