ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3222-4A>G

gnomAD frequency: 0.00004  dbSNP: rs562479062
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
Genetic Services Laboratory, University of Chicago RCV000502629 SCV000594255 uncertain significance not specified 2017-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000869171 SCV001010577 likely benign Dyskeratosis congenita 2024-12-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807272 SCV002055627 likely benign Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900040 SCV004711630 likely benign CTC1-related disorder 2023-09-11 no assertion criteria provided 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.