Submissions for variant NM_014141.6(CNTNAP2):c.3248-4A>G

gnomAD frequency: 0.18203  dbSNP: rs3779031

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081597	SCV000113528	benign	not specified	2014-01-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081597	SCV000312072	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000296722	SCV000467291	benign	Cortical dysplasia-focal epilepsy syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000351513	SCV000467292	benign	Pitt-Hopkins-like syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000296722	SCV000677260	benign	Cortical dysplasia-focal epilepsy syndrome	2017-04-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311650	SCV000845892	benign	Inborn genetic diseases	2016-02-22	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000296722	SCV001728750	benign	Cortical dysplasia-focal epilepsy syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001668204	SCV001886341	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081597	SCV000150763	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081597	SCV001931230	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081597	SCV001972896	benign	not specified		no assertion criteria provided	clinical testing