ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.402+8A>G

gnomAD frequency: 0.00006  dbSNP: rs201311931
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124391 SCV000167823 benign not specified 2013-01-21 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.
Genetic Services Laboratory, University of Chicago RCV000124391 SCV000247068 uncertain significance not specified 2015-03-04 criteria provided, single submitter clinical testing
Invitae RCV000644736 SCV000766439 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945119 SCV004760219 likely benign CNTNAP2-related condition 2019-11-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251952 SCV001427698 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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