ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081646 SCV000113577 benign not specified 2013-10-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344182 SCV000466339 benign Childhood apraxia of speech 2016-06-14 criteria provided, single submitter clinical testing
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
Ambry Genetics RCV002313790 SCV000847362 likely benign Inborn genetic diseases 2018-06-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000513975 SCV001100722 benign not provided 2019-12-24 criteria provided, single submitter clinical testing

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