ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14757-7T>A

gnomAD frequency: 0.00026  dbSNP: rs757297613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000922640 SCV001068077 likely benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001712755 SCV001944392 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150371 SCV003838731 likely benign Cardiomyopathy 2021-06-18 criteria provided, single submitter clinical testing

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