Submissions for variant NM_001101.5(ACTB):c.951C>T (p.Ile317=)

gnomAD frequency: 0.00323  dbSNP: rs13447408

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000614264	SCV000728833	benign	not specified	2017-03-03	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.
Invitae	RCV000862866	SCV001003429	benign	Baraitser-Winter syndrome 1	2024-01-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000862866	SCV002524384	benign	Baraitser-Winter syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253528	SCV002524385	benign	Developmental malformations-deafness-dystonia syndrome	2021-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945543	SCV004758437	benign	ACTB-related condition	2021-01-28	criteria provided, single submitter	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).