ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) (rs35924492)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000154476 SCV000051601 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154476 SCV000204145 benign not specified 2013-08-11 criteria provided, single submitter clinical testing Tyr233Cys in exon 8 of TMEM43: This variant is not expected to have clinical sig nificance because it has been identified in 2.5% (111/4406) of African American chromosomes from by the NHLBI Exome Sequencing Project (http://evs.gs.washington .edu/EVS/rs35924492).
Invitae RCV001082182 SCV000290719 benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243763 SCV000318806 benign Cardiovascular phenotype 2015-10-20 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769155 SCV000900529 benign Cardiomyopathy 2016-10-26 criteria provided, single submitter clinical testing
Color RCV000769155 SCV000913737 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845404 SCV000987469 benign not provided criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852956 SCV000995705 benign Sudden cardiac arrest 2019-03-15 criteria provided, single submitter clinical testing

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