ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) (rs139180845)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715112 SCV000845938 likely benign History of neurodevelopmental disorder 2017-09-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224007 SCV000281151 likely benign not provided 2016-04-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081585 SCV000113516 benign not specified 2013-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000081585 SCV000240751 likely benign not specified 2017-10-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000081585 SCV000150751 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Invitae RCV000463664 SCV000563232 likely benign Pitt-Hopkins-like syndrome 1 2018-01-12 criteria provided, single submitter clinical testing

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