Submissions for variant NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=)

gnomAD frequency: 0.00029  dbSNP: rs36212064

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724143	SCV000229296	uncertain significance	not provided	2014-09-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000724143	SCV000513761	likely benign	not provided	2021-05-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31638414, 28679633)
Ambry Genetics	RCV000619488	SCV000735498	likely benign	Cardiovascular phenotype	2016-08-22	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080718	SCV000749809	benign	Hypertrophic cardiomyopathy	2024-01-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001186295	SCV001352676	likely benign	Cardiomyopathy	2019-03-08	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001080718	SCV004836630	likely benign	Hypertrophic cardiomyopathy	2023-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004552942	SCV004730101	likely benign	MYBPC3-related disorder	2020-07-27	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).