ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11476+10A>C

gnomAD frequency: 0.00004  dbSNP: rs794728702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182643 SCV000235017 benign not specified 2014-09-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516862 SCV000760701 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150056 SCV003838724 uncertain significance Cardiomyopathy 2021-06-07 criteria provided, single submitter clinical testing

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