ClinVar Miner

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

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172759 SCV000054765 benign Hypertrophic cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035495 SCV000059145 benign not specified 2008-03-25 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
Invitae RCV000172759 SCV000284229 benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035495 SCV000303188 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242265 SCV000318777 benign Cardiovascular phenotype 2015-07-27 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV001094059 SCV000372337 likely benign Familial hypertrophic cardiomyopathy 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000394889 SCV000372339 likely benign Left ventricular noncompaction 10 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757504 SCV000885757 benign not provided 2017-08-18 criteria provided, single submitter clinical testing
Color RCV000771817 SCV000904520 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing

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