ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) (rs11570112)

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Total submissions: 20
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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 RCV000172828 SCV000054763 benign Primary familial hypertrophic cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035545 SCV000059195 benign not specified 2017-07-10 criteria provided, single submitter clinical testing p.Gln998Glu in exon 28 of MYBPC3: This variant is not expected to have clinical significance because it has been identified in 9% (90/1000) of Latino chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs11570112).
GeneDx RCV000712370 SCV000170439 benign not provided 2018-12-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28498465, 22763267, 15519027, 27650965, 26332594, 31918855)
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000035545 SCV000256168 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000205320 SCV000259242 benign Hypertrophic cardiomyopathy 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250594 SCV000318155 benign Cardiovascular phenotype 2015-09-29 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 RCV000625021 SCV000372298 likely benign Familial hypertrophic cardiomyopathy 4 2018-01-29 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 RCV000393234 SCV000372299 likely benign Left ventricular noncompaction 10 2018-01-29 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035545 SCV000700571 benign not specified 2016-11-30 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000035545 SCV000740360 likely benign not specified 2016-10-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625021 SCV000743543 benign Familial hypertrophic cardiomyopathy 4 2016-05-19 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625021 SCV000744831 benign Familial hypertrophic cardiomyopathy 4 2017-05-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712370 SCV000842845 benign not provided 2018-06-06 criteria provided, single submitter clinical testing
Color Health, Inc RCV000771144 SCV000902954 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852650 SCV000995355 benign Primary dilated cardiomyopathy; Cardiomyopathy 2019-06-11 criteria provided, single submitter clinical testing
Mendelics RCV000625021 SCV001138291 benign Familial hypertrophic cardiomyopathy 4 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282106 SCV001159078 benign none provided 2019-08-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030288 SCV000052955 benign Primary dilated cardiomyopathy 2015-05-27 no assertion criteria provided clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000712370 SCV000280254 likely benign not provided 2016-03-16 no assertion criteria provided provider interpretation reclassified to likely benign based on 2015 re-review. Data from that re-review is summarized in DOI: 10.1161/CIRCGENETICS.116.001700.
Clinical Genetics,Academic Medical Center RCV000035545 SCV001923416 benign not specified no assertion criteria provided clinical testing

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