ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) (rs3729952)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757504 SCV000885757 benign not provided 2017-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242265 SCV000318777 benign Cardiovascular phenotype 2015-07-27 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 RCV000172759 SCV000054765 benign Hypertrophic cardiomyopathy 2013-06-24 criteria provided, single submitter research
Color RCV000771817 SCV000904520 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035495 SCV000228193 benign not specified 2015-06-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000172759 SCV000372337 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349762 SCV000372338 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394889 SCV000372339 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000172759 SCV000284229 benign Hypertrophic cardiomyopathy 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035495 SCV000059145 benign not specified 2008-03-25 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000627144 SCV000747965 benign Familial dilated cardiomyopathy 2016-07-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000035495 SCV000303188 benign not specified criteria provided, single submitter clinical testing

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