Submissions for variant NM_000256.3(MYBPC3):c.1020C>T (p.Tyr340=)

gnomAD frequency: 0.00014  dbSNP: rs556616131

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204016	SCV000262098	likely benign	Hypertrophic cardiomyopathy	2025-01-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001185553	SCV001351802	likely benign	Cardiomyopathy	2019-04-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001568626	SCV001792532	likely benign	not provided	2020-09-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381712	SCV002671001	likely benign	Cardiovascular phenotype	2019-06-18	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001185553	SCV004239331	likely benign	Cardiomyopathy	2022-09-08	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000204016	SCV004834687	likely benign	Hypertrophic cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing