Submissions for variant NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp)

gnomAD frequency: 0.00223  dbSNP: rs3729799

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035549	SCV000059199	benign	not specified	2018-06-04	criteria provided, single submitter	clinical testing	This variant is classified as benign because it has been identified in 0.7% (182 /23792) of African chromosomes including 2 homozygotes, by the genome Aggregatio n Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs3729799). ACMG/AM P Criteria applied: BA1.
GeneDx	RCV000035549	SCV000170441	benign	not specified	2012-05-08	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.
Invitae	RCV000204590	SCV000260025	benign	Hypertrophic cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619324	SCV000737015	benign	Cardiovascular phenotype	2019-02-22	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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000035549	SCV000748026	likely benign	not specified	2013-09-26	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852649	SCV000995354	likely benign	Cardiomyopathy	2017-06-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000852649	SCV001357597	benign	Cardiomyopathy	2019-01-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001723606	SCV001471003	likely benign	not provided	2023-03-09	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035549	SCV001918187	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000035549	SCV001928167	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723606	SCV001951885	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000035549	SCV001972502	benign	not specified		no assertion criteria provided	clinical testing