Submissions for variant NM_005159.5(ACTC1):c.717G>A (p.Glu239=)

gnomAD frequency: 0.00006  dbSNP: rs369019849

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000774441	SCV000908143	likely benign	Cardiomyopathy	2018-10-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000866826	SCV001007971	likely benign	Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5	2023-09-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002370041	SCV002664215	likely benign	Cardiovascular phenotype	2020-09-08	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.
CeGaT Center for Human Genetics Tuebingen	RCV003411713	SCV004136289	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	ACTC1: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV004001400	SCV004844819	likely benign	Hypertrophic cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing