Submissions for variant NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)

gnomAD frequency: 0.00015  dbSNP: rs532329866

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194481	SCV000247428	uncertain significance	not specified	2015-07-17	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000194481	SCV000336244	likely benign	not specified	2016-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311296	SCV000846825	likely benign	Inborn genetic diseases	2017-01-22	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.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262283	SCV001440094	likely benign	Intellectual disability-severe speech delay-mild dysmorphism syndrome	2019-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001711496	SCV001940152	benign	not provided	2021-01-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31474318)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001711496	SCV002296540	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711496	SCV004698848	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FOXP1: PP3, BS1
Dobyns Lab, Seattle Children's Research Institute	RCV000779637	SCV000916314	likely pathogenic	Intellectual disability-severe speech delay-mild dysmorphism syndrome; Cerebellar vermis hypoplasia	2019-02-18	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV001257987	SCV001434800	likely pathogenic	Congenital cerebellar hypoplasia		no assertion criteria provided	research
PreventionGenetics, part of Exact Sciences	RCV003967497	SCV004782474	likely benign	FOXP1-related disorder	2021-06-29	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).