Submissions for variant NM_005159.5(ACTC1):c.455-7C>T

gnomAD frequency: 0.00009  dbSNP: rs768363857

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000430121	SCV000511962	likely benign	not specified	2016-02-17	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769469	SCV000900864	likely benign	Cardiomyopathy	2017-02-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769469	SCV001345208	likely benign	Cardiomyopathy	2019-01-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001500944	SCV001705745	likely benign	Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5	2023-12-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003970104	SCV004778553	likely benign	ACTC1-related disorder	2023-09-29	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).