ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2244C>T (p.Val748=)

gnomAD frequency: 0.00003  dbSNP: rs758516017
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001470998 SCV001675099 likely benign Dyskeratosis congenita 2022-05-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001470998 SCV002531275 likely benign Dyskeratosis congenita 2021-08-03 criteria provided, single submitter curation

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.