ClinVar Miner

Submissions for variant NM_032682.6(FOXP1):c.1702C>T (p.Pro568Ser) (rs147674680)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175486 SCV000226970 benign not specified 2014-05-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334542 SCV000446127 likely benign Intellectual Disability with Language Impairment and Autistic Features 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437146 SCV000511573 likely benign not provided 2016-11-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000715942 SCV000846774 benign History of neurodevelopmental disorder 2019-04-05 criteria provided, single submitter clinical testing In silico models in agreement (benign);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Garg Lab, Nationwide Children's Hospital RCV000049262 SCV000077518 association Hypoplastic left heart syndrome 1; Aortic valve atresia (disease); Mitral atresia disorder 2013-05-21 no assertion criteria provided research
Garg Lab, Nationwide Children's Hospital RCV000049263 SCV000077519 association Atrioventricular septal defect; Pulmonary atresia with ventricular septal defect; Heterotaxia; Single Ventricle Defect 2013-05-21 no assertion criteria provided research

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