ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) (rs11570051)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251807 SCV000317869 benign Cardiovascular phenotype 2015-06-16 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,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Color RCV000776010 SCV000910550 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601538 SCV000733068 benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000601538 SCV000743578 benign Familial hypertrophic cardiomyopathy 4 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343949 SCV000372395 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406869 SCV000372396 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285513 SCV000372397 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000406869 SCV000558154 benign Hypertrophic cardiomyopathy 2017-08-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035643 SCV000059294 benign not specified 2008-01-18 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845381 SCV000987440 benign not provided criteria provided, single submitter clinical testing
PreventionGenetics RCV000035643 SCV000303199 benign not specified criteria provided, single submitter clinical testing

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