ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) (rs113422365)

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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 RCV000252643 SCV000320116 likely benign Cardiovascular phenotype 2015-07-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777999 SCV000914106 benign Cardiomyopathy 2018-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000154814 SCV000514435 benign not specified 2015-07-02 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 RCV000639133 SCV000760695 benign Catecholaminergic polymorphic ventricular tachycardia 2017-09-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154814 SCV000204495 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Tyr1018Tyr in exon 26 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.2% (7/3204) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs113422365).

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