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

gnomAD frequency: 0.00247  dbSNP: rs11570112

Total submissions: 23

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, Mass General Brigham 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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205320	SCV000259242	benign	Hypertrophic cardiomyopathy	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250594	SCV000318155	benign	Cardiovascular phenotype	2015-09-29	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000625021	SCV000372298	likely benign	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 Laboratory Services, 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.
Eurofins Ntd Llc (ga)	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	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	Hypertrophic cardiomyopathy 4	2017-05-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712370	SCV000842845	benign	not provided	2018-06-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	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	Hypertrophic cardiomyopathy 4	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000712370	SCV001159078	benign	not provided	2021-09-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002482920	SCV002797351	benign	Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10	2022-04-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000712370	SCV005224317	likely benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV000712370	SCV005433176	benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	MYBPC3: PM5, BP4, BS1, BS2
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