Submissions for variant NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)

gnomAD frequency: 0.00002  dbSNP: rs397515929

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035438	SCV000059086	likely benign	not specified	2012-11-20	criteria provided, single submitter	clinical testing	Asp604Asp in exon 19 of MYBPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Asp604Asp in exon 19 of MYBPC3 (allele freq uency = n/a)
Illumina Laboratory Services, Illumina	RCV000299218	SCV000372343	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356394	SCV000372344	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000264440	SCV000372345	uncertain significance	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000035438	SCV000513754	benign	not specified	2015-04-09	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000356394	SCV000623535	benign	Hypertrophic cardiomyopathy	2023-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618801	SCV000736302	likely benign	Cardiovascular phenotype	2016-09-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Color Diagnostics, LLC DBA Color Health	RCV000771259	SCV000903372	benign	Cardiomyopathy	2018-07-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771259	SCV001333604	benign	Cardiomyopathy	2022-08-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035438	SCV001482053	likely benign	not specified	2021-02-01	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000356394	SCV004842440	benign	Hypertrophic cardiomyopathy	2024-01-11	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035438	SCV001924284	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727519	SCV001970433	likely benign	not provided		no assertion criteria provided	clinical testing