ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) (rs114534505)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036761 SCV000060416 benign not specified 2012-04-12 criteria provided, single submitter clinical testing Arg1718Arg in Exon 37 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.3% (46/3638) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs114534505).
GeneDx RCV000036761 SCV000171415 benign not specified 2013-05-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036761 SCV000203481 benign not specified 2014-01-07 criteria provided, single submitter clinical testing
Invitae RCV000858303 SCV000285734 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285637 SCV000356307 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227005 SCV000356308 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769784 SCV000901209 benign Cardiomyopathy 2016-10-11 criteria provided, single submitter clinical testing
Color RCV000769784 SCV000911307 benign Cardiomyopathy 2018-08-17 criteria provided, single submitter clinical testing

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