ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) (rs79811945)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251724 SCV000318244 benign Cardiovascular phenotype 2016-03-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768767 SCV000900137 benign Cardiomyopathy 2016-06-12 criteria provided, single submitter clinical testing
Color RCV000768767 SCV000902736 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036756 SCV000203479 benign not specified 2013-11-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000230447 SCV000356297 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260040 SCV000356298 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230447 SCV000285732 benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036756 SCV000060411 benign not specified 2015-02-18 criteria provided, single submitter clinical testing p.Pro1580Pro in exon 36 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 5.5% (379/6868) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs79811945).
PreventionGenetics RCV000036756 SCV000306062 likely benign not specified criteria provided, single submitter clinical testing

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