ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=)

gnomAD frequency: 0.00004  dbSNP: rs145162968
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723689 SCV000113525 uncertain significance not provided 2013-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000186623 SCV000167821 benign not specified 2014-03-13 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.
Invitae RCV001088926 SCV001006633 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003964936 SCV004783053 likely benign CNTNAP2-related condition 2023-12-05 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).

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