ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.1111T>C (p.Tyr371His) (rs116911972)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622090 SCV000737446 benign Cardiovascular phenotype 2015-09-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Other data supporting benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172121 SCV000051059 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769161 SCV000900536 likely benign Cardiomyopathy 2015-11-06 criteria provided, single submitter clinical testing
Color RCV000769161 SCV000904551 benign Cardiomyopathy 2018-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000039378 SCV000236422 likely benign not specified 2017-06-19 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 RCV000458323 SCV000557667 benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2018-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039378 SCV000063062 benign not specified 2014-12-30 criteria provided, single submitter clinical testing p.Tyr371His in exon 12 of TMEM43: This variant has been reported in at least one individual with Emery-Dreifuss muscular dystrophy, but was also identified in 2 /200 control chromosomes (Liang 2011). It has also been identified in 1% (92/876 2) of East Asian chromosomes by the by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).

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