ClinVar Miner

Submissions for variant NM_024334.2(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
Ambry Genetics RCV000248723 SCV000318807 benign Cardiovascular phenotype 2015-10-20 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000039396 SCV000051603 benign not specified 2013-06-24 criteria provided, single submitter research
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
Illumina Clinical Services Laboratory,Illumina RCV000404482 SCV000441305 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228794 SCV000290723 benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2018-01-12 criteria provided, single submitter clinical testing
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)
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845304 SCV000987344 likely benign not provided criteria provided, single submitter clinical testing

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