ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) (rs143856702)

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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 RCV000720843 SCV000851727 likely benign History of neurodevelopmental disorder 2017-05-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725296 SCV000335746 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000124388 SCV000167819 benign not specified 2013-11-05 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.
Invitae RCV000644747 SCV000766450 likely benign Pitt-Hopkins-like syndrome 1 2017-10-27 criteria provided, single submitter clinical testing

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