ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.*8C>T (rs192707412)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039373 SCV000063057 likely benign not specified 2012-07-18 criteria provided, single submitter clinical testing *8C>T in exon 12 of TMEM43: This variant is not expected to have clinical signif icance because it has been identified in 0.5% (21/4404) of African American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev *8C>T in exon 12 of TMEM43 (allele frequency = 0.5%, 21/4404) **
GeneDx RCV000039373 SCV000168986 benign not specified 2014-01-23 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 RCV000403592 SCV000441308 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039373 SCV000615816 benign not specified 2016-12-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769162 SCV000900537 likely benign Cardiomyopathy 2016-04-11 criteria provided, single submitter clinical testing

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