Submissions for variant NM_005159.5(ACTC1):c.447T>C (p.Arg149=)

gnomAD frequency: 0.00001  dbSNP: rs1315206069

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002539028	SCV001010567	likely benign	Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5	2023-06-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001179606	SCV001344311	likely benign	Cardiomyopathy	2019-06-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003307622	SCV003996034	likely benign	Cardiovascular phenotype	2023-03-16	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.
All of Us Research Program, National Institutes of Health	RCV004003037	SCV004844838	likely benign	Hypertrophic cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000869162	SCV001928644	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000869162	SCV001951847	likely benign	not provided		no assertion criteria provided	clinical testing