Submissions for variant NM_005159.5(ACTC1):c.1098G>A (p.Glu366=)

gnomAD frequency: 0.00001  dbSNP: rs758173419

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000419163	SCV000511964	likely benign	not specified	2015-10-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV001187670	SCV001354529	likely benign	Cardiomyopathy	2019-08-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001437639	SCV001640498	likely benign	Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5	2021-05-13	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001187670	SCV004240302	likely benign	Cardiomyopathy	2023-01-10	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003995945	SCV004844799	likely benign	Hypertrophic cardiomyopathy	2023-03-28	criteria provided, single submitter	clinical testing