ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.633C>A (p.Val211=) (rs140505542)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430920 SCV000512660 likely benign not specified 2016-04-21 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.
Ambry Genetics RCV000720308 SCV000851185 likely benign History of neurodevelopmental disorder 2016-08-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000867826 SCV001009093 likely benign not provided 2019-02-24 criteria provided, single submitter clinical testing

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