ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)

gnomAD frequency: 0.00001  dbSNP: rs748716535
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000351004 SCV000356457 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000407743 SCV000356458 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001256000 SCV003513764 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-08-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532081 SCV004361513 likely benign Cardiomyopathy 2022-01-05 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, West China Hospital, Sichuan University RCV001256000 SCV001371553 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 no assertion criteria provided in vitro The clinical manifestations of the proband are accelerated borderline autonomic heart rhythm and third degree atrioventricular block. In vitro minigene studies indicate that the variant is not likely to interrupt its normal splicing process.

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