Submissions for variant NM_005249.5(FOXG1):c.206C>A (p.Pro69Gln)

gnomAD frequency: 0.00057  dbSNP: rs727503933

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000187433	SCV000202737	likely benign	not specified	2017-04-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001704111	SCV000241023	likely benign	not provided	2020-09-24	criteria provided, single submitter	clinical testing
Invitae	RCV000552489	SCV000660420	benign	Rett syndrome, congenital variant	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415649	SCV002725667	likely benign	Inborn genetic diseases	2017-09-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV001704111	SCV002822132	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	FOXG1: PP2, BS1
PreventionGenetics, part of Exact Sciences	RCV003927481	SCV004742303	likely benign	FOXG1-related condition	2023-09-03	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).