Gene Symbol:
ACTC1
HGNC:143
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q14
Filters:

Ambry Genetics classifications

hypertrophic cardiomyopathy 11
Submitted as: OMIM:612098
AD
05/04/2018
Evaluated
03/02/2021
Submitted

ClinGen classifications

hypertrophic cardiomyopathy
AD
06/23/2021
Evaluated
04/21/2024
Submitted
dilated cardiomyopathy
AD
08/12/2020
Evaluated
04/21/2024
Submitted
arrhythmogenic right ventricular cardiomyopathy
AD
03/15/2019
Evaluated
04/21/2024
Submitted

Invitae classifications

hypertrophic cardiomyopathy 11
Submitted as: OMIM:612098
AD
07/11/2017
Evaluated
11/30/2023
Submitted
atrial septal defect 5
Submitted as: OMIM:612794
AD
07/11/2017
Evaluated
11/30/2023
Submitted
dilated cardiomyopathy 1R
Submitted as: OMIM:613424
AD
07/12/2017
Evaluated
11/30/2023
Submitted

Orphanet classifications

familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

hypertrophic cardiomyopathy 11
Submitted as: OMIM:612098
AD
08/06/2020
Evaluated
11/06/2020
Submitted

G2P classifications

hypertrophic cardiomyopathy 11
AD
04/25/2022
Evaluated
09/11/2023
Submitted

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