ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) (rs143877693)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720393 SCV000851270 uncertain significance History of neurodevelopmental disorder 2017-10-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081586 SCV000113517 benign not specified 2013-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000081586 SCV000240725 likely benign not specified 2018-01-18 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 RCV000081586 SCV000247052 likely benign not specified 2016-07-05 criteria provided, single submitter clinical testing
Invitae RCV000527421 SCV000645074 benign Pitt-Hopkins-like syndrome 1 2017-12-06 criteria provided, single submitter clinical testing

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