Submissions for variant NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=)

gnomAD frequency: 0.38767  dbSNP: rs1052373

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035574	SCV000059224	benign	not specified	2008-06-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000035574	SCV000170443	benign	not specified	2012-09-25	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.
PreventionGenetics, part of Exact Sciences	RCV000035574	SCV000303193	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244915	SCV000317564	benign	Cardiovascular phenotype	2015-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV000288961	SCV000372288	benign	Left ventricular noncompaction 10	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000614355	SCV000372290	benign	Hypertrophic cardiomyopathy 4	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000035574	SCV000604330	benign	not specified	2018-07-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000614355	SCV000743675	benign	Hypertrophic cardiomyopathy 4	2014-10-10	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000614355	SCV000745030	benign	Hypertrophic cardiomyopathy 4	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771043	SCV000902544	benign	Cardiomyopathy	2018-03-16	criteria provided, single submitter	clinical testing
Invitae	RCV000384431	SCV001000285	benign	Hypertrophic cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000035574	SCV001433182	benign	not specified	2019-08-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000288961	SCV002014339	benign	Left ventricular noncompaction 10	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000614355	SCV002014340	benign	Hypertrophic cardiomyopathy 4	2021-09-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000614355	SCV000733030	benign	Hypertrophic cardiomyopathy 4		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035574	SCV001918393	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035574	SCV001953434	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000771043	SCV003800599	benign	Cardiomyopathy	2022-10-10	no assertion criteria provided	clinical testing