ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) (rs112864477)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030412 SCV000900162 benign Cardiomyopathy 2016-04-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036688 SCV000111248 benign not specified 2013-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000036688 SCV000171438 benign not specified 2013-04-11 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.
Integrated Genetics/Laboratory Corporation of America RCV000030412 SCV000053081 benign Cardiomyopathy 2014-05-16 no assertion criteria provided clinical testing
Invitae RCV000225859 SCV000285702 benign Catecholaminergic polymorphic ventricular tachycardia 2017-12-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036688 SCV000060343 benign not specified 2012-03-14 criteria provided, single submitter clinical testing Leu4677Leu in exon 97 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and has been identifie d in 1.7% (52/3126) of African American chromosomes from a broad population by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs112 864477).

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