ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) (rs35028636)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245492 SCV000318480 benign Cardiovascular phenotype 2015-09-17 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000039392 SCV000051598 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770177 SCV000901604 likely benign Cardiomyopathy 2017-08-04 criteria provided, single submitter clinical testing
Color RCV000770177 SCV000902859 benign Cardiomyopathy 2018-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000039392 SCV000236425 benign not specified 2012-02-28 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 RCV000357662 SCV000441287 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000231100 SCV000290721 benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039392 SCV000063076 benign not specified 2012-04-05 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000357662 SCV000987333 benign Arrhythmogenic right ventricular cardiomyopathy criteria provided, single submitter clinical testing

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