ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1573+39G>C

gnomAD frequency: 0.02633  dbSNP: rs79662648
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
GeneDx RCV001609735 SCV001837767 benign not provided 2018-12-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838706 SCV002098803 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838705 SCV002098814 benign Dyskeratosis congenita, autosomal dominant 2 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001609735 SCV005305545 benign not provided criteria provided, single submitter 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.