Submissions for variant NM_001101.5(ACTB):c.420A>G (p.Leu140=)

gnomAD frequency: 0.00145  dbSNP: rs13447405

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000336952	SCV000345490	benign	not specified	2016-09-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080828	SCV000763856	benign	Baraitser-Winter syndrome 1	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000680681	SCV000808125	benign	not provided	2018-05-22	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.
Athena Diagnostics	RCV000680681	SCV001142914	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001080828	SCV002524403	benign	Baraitser-Winter syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253376	SCV002524404	benign	Developmental malformations-deafness-dystonia syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002487287	SCV002804331	benign	Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome	2021-07-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549625	SCV004762158	benign	ACTB-related disorder	2021-10-27	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).