ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) (rs113449357)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756785 SCV000884695 benign not provided 2017-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243225 SCV000318348 benign Cardiovascular phenotype 2015-04-06 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000039394 SCV000051602 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030555 SCV000900532 likely benign Cardiomyopathy 2017-08-17 criteria provided, single submitter clinical testing
Color RCV000030555 SCV000902668 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000039394 SCV000168985 benign not specified 2012-05-01 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.
Illumina Clinical Services Laboratory,Illumina RCV000336793 SCV000441304 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030555 SCV000053226 benign Cardiomyopathy 2015-04-09 no assertion criteria provided clinical testing
Invitae RCV000233894 SCV000290722 benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039394 SCV000063078 benign not specified 2012-04-17 criteria provided, single submitter clinical testing Arg312Trp in Exon 11 of TMEM43: This variant is not expected to have clinical si gnificance because it has been identified in 1.3% (93/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs113449357).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000336793 SCV000987339 likely benign Arrhythmogenic right ventricular cardiomyopathy criteria provided, single submitter clinical testing
PreventionGenetics RCV000039394 SCV000314289 benign not specified criteria provided, single submitter clinical testing

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