Submissions for variant NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=)

gnomAD frequency: 0.00004  dbSNP: rs727504858

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156210	SCV000205926	likely benign	not specified	2013-11-12	criteria provided, single submitter	clinical testing	Tyr213Tyr in exon 5 of MYBPC3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Tyr213Tyr in exon 5 of MYBPC3 (allele frequ ency = n/a)
GeneDx	RCV001719978	SCV000730223	likely benign	not provided	2021-04-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28679633)
Color Diagnostics, LLC DBA Color Health	RCV001182254	SCV001347643	likely benign	Cardiomyopathy	2019-01-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512033	SCV001719372	benign	Hypertrophic cardiomyopathy	2025-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362828	SCV002658838	likely benign	Cardiovascular phenotype	2020-01-15	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.
Fulgent Genetics, Fulgent Genetics	RCV002478465	SCV002795439	likely benign	Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10	2021-08-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001182254	SCV004239389	likely benign	Cardiomyopathy	2023-03-21	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001512033	SCV004834747	likely benign	Hypertrophic cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004737243	SCV005354004	likely benign	MYBPC3-related disorder	2024-07-15	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).