ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.909C>T (p.Ser303=) (rs35100587)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241757 SCV000317778 benign Cardiovascular phenotype 2015-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000771074 SCV000902606 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039393 SCV000153048 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281924 SCV000441303 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000477225 SCV000557664 benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2017-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039393 SCV000063077 benign not specified 2009-02-12 criteria provided, single submitter clinical testing

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