ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5127C>A (p.Ile1709=)

dbSNP: rs1553522097
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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 RCV000639143 SCV000760708 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-09-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768773 SCV000900143 likely benign Cardiomyopathy 2017-10-19 criteria provided, single submitter clinical testing

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