ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) (rs11924644)

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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 RCV000039396 SCV000051603 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039396 SCV000063080 benign not specified 2012-04-10 criteria provided, single submitter clinical testing 2.1% (n=79 alleles) in AA (ESP)
Invitae RCV001082183 SCV000290723 benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248723 SCV000318807 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 RCV000769158 SCV000900533 benign Cardiomyopathy 2016-10-26 criteria provided, single submitter clinical testing
Color RCV000769158 SCV000913761 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845304 SCV000987344 likely benign not provided criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852957 SCV000995706 benign Sudden cardiac arrest 2019-03-15 criteria provided, single submitter clinical testing

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