ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5916+9A>G

gnomAD frequency: 0.00001  dbSNP: rs1002006336
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769788 SCV000901213 uncertain significance Cardiomyopathy 2017-08-24 criteria provided, single submitter clinical testing
Invitae RCV002533953 SCV001645967 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-09-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230583 SCV003929109 uncertain significance not specified 2023-04-17 criteria provided, single submitter clinical testing

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