Submissions for variant NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly)

gnomAD frequency: 0.09621  dbSNP: rs3729989

Total submissions: 22

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172761	SCV000051566	benign	Hypertrophic cardiomyopathy	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035662	SCV000059313	benign	not specified	2008-01-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000035662	SCV000110304	benign	not specified	2013-03-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000035662	SCV000170451	benign	not specified	2011-07-12	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	RCV000035662	SCV000303200	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000252619	SCV000317846	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: 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	RCV000604115	SCV000372393	likely benign	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). 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.
Illumina Laboratory Services, Illumina	RCV000289076	SCV000372394	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000604115	SCV000743573	benign	Hypertrophic cardiomyopathy 4	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000604115	SCV000744869	benign	Hypertrophic cardiomyopathy 4	2015-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757503	SCV000885756	benign	not provided	2023-11-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776002	SCV000910535	benign	Cardiomyopathy	2018-03-19	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000757503	SCV000987330	benign	not provided		criteria provided, single submitter	clinical testing
Invitae	RCV000172761	SCV001000287	benign	Hypertrophic cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000289076	SCV002014346	benign	Left ventricular noncompaction 10	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000604115	SCV002014347	benign	Hypertrophic cardiomyopathy 4	2021-09-05	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000172761	SCV004834732	benign	Hypertrophic cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000604115	SCV000733063	benign	Hypertrophic cardiomyopathy 4		no assertion criteria provided	clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University	RCV000757503	SCV000924847	benign	not provided	2017-10-03	no assertion criteria provided	provider interpretation
Clinical Genetics, Academic Medical Center	RCV000035662	SCV001920515	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035662	SCV001952814	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000172761	SCV003800609	benign	Hypertrophic cardiomyopathy	2022-10-10	no assertion criteria provided	clinical testing