Submissions for variant NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del)

dbSNP: rs398124272

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081641	SCV000113572	benign	not specified	2013-08-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000389230	SCV000466334	likely benign	Childhood apraxia of speech	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313787	SCV000847460	likely benign	Inborn genetic diseases	2018-10-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000973574	SCV001121339	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000389230	SCV002794957	likely benign	Childhood apraxia of speech	2021-08-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925070	SCV004744845	likely benign	FOXP2-related disorder	2023-12-18	no assertion criteria provided	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).