Submissions for variant NM_014141.6(CNTNAP2):c.3381+17A>C

gnomAD frequency: 0.39925  dbSNP: rs3779032

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081598	SCV000113529	benign	not specified	2013-12-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081598	SCV000312073	benign	not specified		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582569	SCV001821539	benign	Cortical dysplasia-focal epilepsy syndrome	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001711194	SCV001939620	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001582569	SCV002333215	benign	Cortical dysplasia-focal epilepsy syndrome	2025-02-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711194	SCV005272792	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081598	SCV001740893	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081598	SCV001932672	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081598	SCV001966691	benign	not specified		no assertion criteria provided	clinical testing