ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) (rs3729989)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757503 SCV000885756 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252619 SCV000317846 benign Cardiovascular phenotype 2015-03-11 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 RCV000172761 SCV000051566 benign Hypertrophic cardiomyopathy 2013-06-24 criteria provided, single submitter research
Color RCV000776002 SCV000910535 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000604115 SCV000744869 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604115 SCV000733063 benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035662 SCV000110304 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000035662 SCV000170451 benign not specified 2011-07-12 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 RCV000604115 SCV000743573 benign Familial hypertrophic cardiomyopathy 4 2014-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328914 SCV000372392 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000172761 SCV000372393 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289076 SCV000372394 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035662 SCV000059313 benign not specified 2008-01-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000035662 SCV000303200 benign not specified criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000757503 SCV000924847 benign not provided 2017-10-03 no assertion criteria provided provider interpretation

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