Submissions for variant NM_001614.5(ACTG1):c.39C>T (p.Gly13=)

gnomAD frequency: 0.00087  dbSNP: rs146865914

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000680346	SCV000526806	benign	not provided	2019-09-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25186949)
Invitae	RCV001089251	SCV000652317	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2023-12-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000429267	SCV000705452	likely benign	not specified	2017-02-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253441	SCV002524514	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253440	SCV002524515	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000680346	SCV004144625	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	ACTG1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003912712	SCV004732102	likely benign	ACTG1-related condition	2019-05-06	criteria provided, single submitter	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).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000680346	SCV001952134	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000680346	SCV001970793	likely benign	not provided		no assertion criteria provided	clinical testing