ClinVar Miner

Submissions for variant NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln) (rs111544687)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716521 SCV000847362 likely benign History of neurodevelopmental disorder 2017-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,No disease association in small case-control study,Other data supporting benign classification
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513975 SCV000609740 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081646 SCV000113577 benign not specified 2013-10-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344182 SCV000466339 benign Speech-language disorder 1 2016-06-14 criteria provided, single submitter clinical testing

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