ClinVar Miner

Submissions for variant NM_001035.2(RYR2):c.10641G>A (p.Thr3547=) (rs144256966)

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Total submissions: 7
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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 RCV000769800 SCV000901226 likely benign Cardiomyopathy 2016-01-28 criteria provided, single submitter clinical testing
Color RCV000769800 SCV000911149 benign Cardiomyopathy 2018-08-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723746 SCV000111246 uncertain significance not provided 2015-06-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227568 SCV000356417 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391538 SCV000356418 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227568 SCV000285688 benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036652 SCV000060307 benign not specified 2012-04-04 criteria provided, single submitter clinical testing Thr3547Thr in Exon 74 of RYR2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.4% (12/3044) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs144256966).

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