ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3716-6C>G (rs77025884)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576591 SCV000677262 benign Pitt-Hopkins-like syndrome 1 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081603 SCV000113534 benign not specified 2015-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000081603 SCV000167816 benign not specified 2013-05-30 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 RCV000081603 SCV000150765 benign not specified 2014-01-24 criteria provided, single submitter clinical testing
Invitae RCV000576591 SCV000766460 benign Pitt-Hopkins-like syndrome 1 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081603 SCV000312077 benign not specified criteria provided, single submitter clinical testing

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