ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3344-4G>A

gnomAD frequency: 0.00005  dbSNP: rs367703929
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000941898 SCV001087801 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-10-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272196 SCV001453926 uncertain significance Dyskeratosis congenita 2020-03-11 no assertion criteria provided clinical testing

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.