Submissions for variant NM_001614.5(ACTG1):c.81C>T (p.Pro27=)

gnomAD frequency: 0.00004  dbSNP: rs11549230

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194929	SCV000246321	uncertain significance	not specified	2015-05-26	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000194929	SCV001365478	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Pro27Pro in Exon 02 of ACTG1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/7020 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs11549230).
GeneDx	RCV001657977	SCV001881817	benign	not provided	2021-01-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054248	SCV002401425	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2023-11-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001657977	SCV004144623	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ACTG1: BS1, BS2