ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.765C>T (p.Gly255=)

gnomAD frequency: 0.00635  dbSNP: rs62001916
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000955524 SCV001102234 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000955524 SCV001763964 likely benign not provided 2020-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000955524 SCV004140594 benign not provided 2024-07-01 criteria provided, single submitter clinical testing CNTNAP1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000955524 SCV005212799 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.