ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) (rs149185385)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186620 SCV000167797 benign not specified 2013-05-23 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723806 SCV000202517 uncertain significance not provided 2014-01-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000186620 SCV000312069 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313460 SCV000467277 uncertain significance Pitt-Hopkins-like syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368109 SCV000467278 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000186620 SCV000594170 likely benign not specified 2016-12-07 criteria provided, single submitter clinical testing
Invitae RCV000313460 SCV000766454 likely benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716988 SCV000847833 likely benign History of neurodevelopmental disorder 2016-09-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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