ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3303G>A (p.Thr1101=)

gnomAD frequency: 0.00001  dbSNP: rs551516320
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
Invitae RCV002526487 SCV000561733 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323805 SCV002611257 likely benign Dyskeratosis congenita; Hereditary cancer-predisposing syndrome 2022-02-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002496836 SCV002810071 likely benign Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 2022-05-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003431035 SCV004153846 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TERT: BP4, BP7

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.