Submissions for variant NM_001614.5(ACTG1):c.72C>T (p.Asp24=)

gnomAD frequency: 0.00107  dbSNP: rs139517777

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217316	SCV000269975	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Asp24Asp in Exon 02 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (12/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs139517777).
Eurofins Ntd Llc (ga)	RCV000217316	SCV000332426	likely benign	not specified	2015-07-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001712093	SCV000516877	benign	not provided	2019-01-15	criteria provided, single submitter	clinical testing
Invitae	RCV000877762	SCV001020545	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2024-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000217316	SCV001879776	benign	not specified	2021-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000217316	SCV002069290	likely benign	not specified	2020-03-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253299	SCV002524508	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253298	SCV002524509	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001712093	SCV004185089	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	ACTG1: BP4, BP7, BS1