Submissions for variant NM_005159.5(ACTC1):c.246C>T (p.Asp82=)

gnomAD frequency: 0.00009  dbSNP: rs373261583

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000601921	SCV000730620	likely benign	not specified	2018-01-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000862048	SCV001002483	likely benign	Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5	2023-12-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001189423	SCV001356709	likely benign	Cardiomyopathy	2019-10-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002448905	SCV002733909	likely benign	Cardiovascular phenotype	2021-02-20	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	RCV004002617	SCV004844856	likely benign	Hypertrophic cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004704133	SCV005214406	likely benign	not provided		criteria provided, single submitter	not provided