Submissions for variant NM_001349338.3(FOXP1):c.1217C>G (p.Thr406Ser)

gnomAD frequency: 0.00016  dbSNP: rs200355554

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000499532	SCV000594869	uncertain significance	not specified	2016-08-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001705514	SCV000728465	likely benign	not provided	2021-01-06	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV001705514	SCV002119721	likely benign	not provided	2025-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356476	SCV002655758	likely benign	Inborn genetic diseases	2018-04-11	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.
CeGaT Center for Human Genetics Tuebingen	RCV001705514	SCV004150479	uncertain significance	not provided	2023-01-01	criteria provided, single submitter	clinical testing