ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2583-2A>C

dbSNP: rs111576740
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
OMIM RCV000030625 SCV000053303 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2007-03-29 no assertion criteria provided literature only
GeneReviews RCV000032386 SCV000056042 pathologic Interstitial lung disease 2 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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.