ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3363G>A (p.Pro1121=)

gnomAD frequency: 0.00009  dbSNP: rs750020682
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002530164 SCV000650774 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257828 SCV002533154 likely benign Dyskeratosis congenita 2021-06-10 criteria provided, single submitter curation
Ambry Genetics RCV002257828 SCV002615471 likely benign Dyskeratosis congenita 2022-02-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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.