Submissions for variant NM_001101.5(ACTB):c.168C>T (p.Asp56=)

gnomAD frequency: 0.00144  dbSNP: rs13447398

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000282092	SCV000345489	benign	not specified	2016-09-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000282092	SCV000728681	benign	not specified	2017-04-24	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	RCV001086381	SCV000763855	benign	Baraitser-Winter syndrome 1	2025-02-02	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000642201	SCV001142913	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001086381	SCV002524408	benign	Baraitser-Winter syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253375	SCV002524409	benign	Developmental malformations-deafness-dystonia syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502156	SCV002805018	benign	Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome	2021-07-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549624	SCV004762308	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).