Submissions for variant NM_001614.5(ACTG1):c.399C>T (p.Tyr133=)

gnomAD frequency: 0.01567  dbSNP: rs2230158

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116231	SCV000150144	benign	not specified	2013-02-20	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000116231	SCV000204715	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Tyr133Tyr in Exon 04 of ACTG1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.8% (69/3736) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2230158).
Eurofins Ntd Llc (ga)	RCV000116231	SCV000230174	benign	not specified	2015-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000116231	SCV000516210	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	RCV000991478	SCV001142902	benign	not provided	2018-09-12	criteria provided, single submitter	clinical testing
Invitae	RCV001512130	SCV001719480	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253218	SCV002524479	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253217	SCV002524480	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000991478	SCV004562797	benign	not provided	2023-09-27	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116231	SCV001958936	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000991478	SCV001965233	likely benign	not provided		no assertion criteria provided	clinical testing