ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) (rs11570076)

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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 RCV000243432 SCV000318208 benign Cardiovascular phenotype 2015-07-14 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
Biesecker Lab/Human Development Section,National Institutes of Health RCV000035371 SCV000054772 benign not specified 2013-06-24 criteria provided, single submitter research
Color RCV000771760 SCV000904418 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing
GeneDx RCV000035371 SCV000170459 benign not specified 2011-07-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625027 SCV000743564 benign Familial hypertrophic cardiomyopathy 4 2016-10-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228680 SCV000372362 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304992 SCV000372363 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361955 SCV000372364 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228680 SCV000284203 benign Hypertrophic cardiomyopathy 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035371 SCV000059019 benign not specified 2011-06-09 criteria provided, single submitter clinical testing This variant is classified as benign based on its high frequency in the general population (rs11570076; MAF = 7%).
PreventionGenetics RCV000035371 SCV000303182 likely benign not specified criteria provided, single submitter clinical testing

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