Submissions for variant NM_001614.5(ACTG1):c.18C>T (p.Ala6=)

gnomAD frequency: 0.00128  dbSNP: rs145211830

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213239	SCV000269971	likely benign	not specified	2017-07-25	criteria provided, single submitter	clinical testing	p.Ala6Ala in exon 2 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.2% (251/ 126672) o f European chromosomes by the Exome Genome Aggregation Database (http://gnomad.b roadinstitute.org/; dbSNP rs145211830).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000876469	SCV001019044	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2025-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001682930	SCV001901997	benign	not provided	2018-07-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000213239	SCV002069301	likely benign	not specified	2017-12-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253297	SCV002524517	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253296	SCV002524518	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001682930	SCV004144626	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ACTG1: BP4, BP7, BS1