ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1401C>T (p.Tyr467=)

gnomAD frequency: 0.00079  dbSNP: rs150409406
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
Invitae RCV000861474 SCV001001799 benign Dyskeratosis congenita 2023-12-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000861474 SCV002531253 likely benign Dyskeratosis congenita 2021-06-17 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003908158 SCV004723435 benign CTC1-related condition 2019-04-08 criteria provided, single submitter clinical testing This variant is classified as 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.