ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)

dbSNP: rs28936072
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
OMIM RCV000055631 SCV000032585 pathogenic Dyskeratosis congenita, X-linked 2002-12-01 no assertion criteria provided literature only
GeneReviews RCV000012351 SCV000055772 not provided Hoyeraal-Hreidarsson syndrome no assertion provided literature only
UniProtKB/Swiss-Prot RCV000055631 SCV000090819 not provided Dyskeratosis congenita, X-linked no assertion provided 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.