ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9449+8T>A (rs60777199)

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Total submissions: 6
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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 RCV000768778 SCV000900148 benign Cardiomyopathy 2016-02-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363281 SCV000356383 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267419 SCV000356384 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000363281 SCV000262106 benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036804 SCV000060459 benign not specified 2012-02-23 criteria provided, single submitter clinical testing 9449+8T>A in intron 66 of RYR2: This variant is not expected to have clinical si gnificance because it has been identified in 7% (207/2918) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs60777199).
PreventionGenetics RCV000036804 SCV000306081 benign not specified criteria provided, single submitter clinical testing

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