ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.1709A>G (p.Asn570Ser) (rs140161845)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195019 SCV000247426 benign not specified 2016-06-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000195019 SCV000345779 likely benign not specified 2016-09-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281805 SCV000446126 likely benign Intellectual Disability with Language Impairment and Autistic Features 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719934 SCV000850806 likely benign History of neurodevelopmental disorder 2017-08-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Does not segregate with disease in family study (genes with incomplete penetrance),In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000195019 SCV000864340 likely benign not specified 2017-06-02 criteria provided, single submitter clinical testing BS1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Invitae RCV000906508 SCV001051151 benign not provided 2018-07-19 criteria provided, single submitter clinical testing

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