Submissions for variant NM_005249.5(FOXG1):c.1233G>A (p.Ala411=)

gnomAD frequency: 0.00801  dbSNP: rs34654108

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081277	SCV000113185	benign	not specified	2012-10-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000081277	SCV000168585	benign	not specified	2012-05-10	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.
Genetic Services Laboratory, University of Chicago	RCV000081277	SCV000193129	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000542433	SCV000660419	benign	Rett syndrome, congenital variant	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313780	SCV000847354	benign	Inborn genetic diseases	2016-04-15	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV004714414	SCV005292181	benign	not provided		criteria provided, single submitter	not provided