ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3716-17TCTT[3] (rs142426153)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081602 SCV000113533 benign not specified 2013-05-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000116773 SCV000150749 uncertain significance not provided 2013-06-20 criteria provided, single submitter clinical testing
GeneDx RCV000081602 SCV000240741 benign not specified 2013-12-20 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.
Genetic Services Laboratory,University of Chicago RCV000081602 SCV000247066 benign not specified 2014-07-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081602 SCV000312076 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576384 SCV000677261 benign Pitt-Hopkins-like syndrome 1 2017-04-28 criteria provided, single submitter clinical testing

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.