ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser)

gnomAD frequency: 0.00012  dbSNP: rs150686112
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000976461 SCV001124364 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-02-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001272199 SCV002533593 uncertain significance Dyskeratosis congenita 2021-09-20 criteria provided, single submitter curation
GeneDx RCV005054284 SCV005688130 uncertain significance not provided 2024-07-30 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24627221)
Natera, Inc. RCV001272199 SCV001453929 likely benign Dyskeratosis congenita 2020-01-02 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004735920 SCV005348817 likely benign RTEL1-related disorder 2024-04-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.