ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) (rs150918383)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081609 SCV000113540 benign not specified 2012-09-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081609 SCV000150750 benign not specified 2015-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000081609 SCV000240724 likely benign not specified 2017-09-28 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.
PreventionGenetics,PreventionGenetics RCV000081609 SCV000312081 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000711335 SCV000563238 benign not provided 2019-02-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711335 SCV000841677 benign not provided 2017-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715118 SCV000845944 likely benign History of neurodevelopmental disorder 2017-09-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Other strong data

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