ClinVar Miner

Submissions for variant NM_001035.2(RYR2):c.4695T>C (p.Pro1565=) (rs368826662)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617382 SCV000738039 likely benign Cardiovascular phenotype 2017-05-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Color RCV000771756 SCV000904414 benign Cardiomyopathy 2018-04-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303634 SCV000356293 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358381 SCV000356294 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000303634 SCV000637565 benign Catecholaminergic polymorphic ventricular tachycardia 2017-10-27 criteria provided, single submitter clinical testing

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