ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) (rs114303476)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036700 SCV000060355 benign not specified 2012-02-08 criteria provided, single submitter clinical testing Classified as bening based on high frequency (0.03; 101/3186 AA chromosomes, NHL BI ESP)
Invitae RCV000858447 SCV000285704 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249207 SCV000318475 benign Cardiovascular phenotype 2015-09-18 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
Illumina Clinical Services Laboratory,Illumina RCV000329225 SCV000356491 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000231415 SCV000356492 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 RCV000768793 SCV000900165 benign Cardiomyopathy 2016-04-05 criteria provided, single submitter clinical testing
Color RCV000768793 SCV000913465 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing

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