ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3305T>C (p.Val1102Ala) (rs111599875)

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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 RCV000716407 SCV000847247 likely benign History of neurodevelopmental disorder 2017-12-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000187160 SCV000333208 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000187160 SCV000240738 likely benign not specified 2017-11-30 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 RCV000187160 SCV000594186 likely benign not specified 2015-10-20 criteria provided, single submitter clinical testing
Invitae RCV000460589 SCV000563229 likely benign Pitt-Hopkins-like syndrome 1 2017-12-29 criteria provided, single submitter clinical testing

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