ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.44C>T (p.Ala15Val) (rs532329866)

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Total submissions: 5
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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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194481 SCV000336244 likely benign not specified 2016-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262725 SCV000446140 uncertain significance Intellectual Disability with Language Impairment and Autistic Features 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715992 SCV000846825 likely benign History of neurodevelopmental disorder 2017-01-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Does not segregate with disease in family study (genes with incomplete penetrance)
Dobyns Lab,Seattle Children's Research Institute RCV000779637 SCV000916314 likely pathogenic Mental retardation with language impairment and with or without autistic features; Cerebellar vermis hypoplasia 2019-02-18 no assertion criteria provided research

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