Submissions for variant NM_001614.5(ACTG1):c.729C>T (p.Pro243=)

gnomAD frequency: 0.01563  dbSNP: rs2230159

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116233	SCV000150148	benign	not specified	2013-02-20	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000116233	SCV000196998	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Pro243Pro in Exon 04 of ACTG1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.7% (62/3736) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2230159)."
Eurofins Ntd Llc (ga)	RCV000116233	SCV000230175	benign	not specified	2015-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000116233	SCV000516196	benign	not specified	2015-11-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000991479	SCV001142904	benign	not provided	2018-09-12	criteria provided, single submitter	clinical testing
Invitae	RCV001512129	SCV001719479	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253222	SCV002524455	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253221	SCV002524456	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000991479	SCV004562792	benign	not provided	2023-09-27	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116233	SCV001951635	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000991479	SCV001972919	likely benign	not provided		no assertion criteria provided	clinical testing