ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) (rs369917806)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617184 SCV000736997 likely benign Cardiovascular phenotype 2016-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777845 SCV000913846 likely benign Cardiomyopathy 2018-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000036675 SCV000514457 likely benign not specified 2016-12-29 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.
Invitae RCV000546215 SCV000637505 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-09-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036675 SCV000060330 likely benign not specified 2012-08-20 criteria provided, single submitter clinical testing Ile4379Ile in exon 90 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2/6674 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Ile4379Ile in exon 90 of RYR2 (allele frequ ency = 2/6674) **

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