ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3305T>C (p.Val1102Ala)

gnomAD frequency: 0.00235  dbSNP: rs111599875
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187160 SCV000240738 likely benign not specified 2017-11-30 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.
Eurofins Ntd Llc (ga) RCV000187160 SCV000333208 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000460589 SCV000563229 likely benign Cortical dysplasia-focal epilepsy syndrome 2025-01-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000187160 SCV000594186 likely benign not specified 2015-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311264 SCV000847247 likely benign Inborn genetic diseases 2019-01-07 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen RCV003311709 SCV004010735 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CNTNAP2: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003311709 SCV005219807 likely benign not provided criteria provided, single submitter not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.