Submissions for variant NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=)

gnomAD frequency: 0.00007  dbSNP: rs397515955

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035474	SCV000059122	likely benign	not specified	2008-03-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000629075	SCV000749988	likely benign	Hypertrophic cardiomyopathy	2025-01-23	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770337	SCV000901771	likely benign	Cardiomyopathy	2016-08-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000770337	SCV001358506	likely benign	Cardiomyopathy	2018-11-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426550	SCV002730683	likely benign	Cardiovascular phenotype	2022-05-24	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.
All of Us Research Program, National Institutes of Health	RCV000629075	SCV004842377	likely benign	Hypertrophic cardiomyopathy	2023-12-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035474	SCV001920355	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701645	SCV001928724	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701645	SCV001957031	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549419	SCV004717768	likely benign	MYBPC3-related disorder	2020-09-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).