ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.60+10C>A

gnomAD frequency: 0.00013  dbSNP: rs769120532
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502640 SCV000593866 uncertain significance not specified 2016-03-22 criteria provided, single submitter clinical testing
Invitae RCV003736795 SCV004550684 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902762 SCV004721173 likely benign CC2D1A-related disorder 2024-01-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.