Submissions for variant NM_001101.5(ACTB):c.426G>T (p.Leu142=)

gnomAD frequency: 0.00353  dbSNP: rs79074016

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000445157	SCV000521552	benign	not provided	2017-03-22	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080382	SCV000641800	benign	Baraitser-Winter syndrome 1	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001080382	SCV002524401	benign	Baraitser-Winter syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253432	SCV002524402	benign	Developmental malformations-deafness-dystonia syndrome	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000445157	SCV002563934	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ACTB: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002488913	SCV002811853	likely benign	Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome	2021-07-19	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573551	SCV001799590	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000445157	SCV001957441	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000445157	SCV001972584	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551448	SCV004790213	benign	ACTB-related disorder	2019-04-22	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).