Submissions for variant NM_014141.6(CNTNAP2):c.3797-6C>T

gnomAD frequency: 0.01899  dbSNP: rs79777576

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116784	SCV000150768	benign	not specified	2013-09-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000116784	SCV000167818	benign	not specified	2012-05-24	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230878	SCV000289931	benign	Cortical dysplasia-focal epilepsy syndrome	2025-02-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116784	SCV000312080	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000309924	SCV000467303	likely benign	Pitt-Hopkins-like syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000230878	SCV000467304	likely benign	Cortical dysplasia-focal epilepsy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000116784	SCV001932387	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116784	SCV001972773	benign	not specified		no assertion criteria provided	clinical testing