ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) (rs201219937)

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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 RCV000719908 SCV000850780 likely benign History of neurodevelopmental disorder 2016-10-21 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 RCV000724334 SCV000227947 uncertain significance not provided 2014-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000186621 SCV000167815 benign not specified 2014-01-16 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 RCV000228042 SCV000289930 benign Pitt-Hopkins-like syndrome 1 2017-12-14 criteria provided, single submitter clinical testing

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