ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln)

gnomAD frequency: 0.01190  dbSNP: rs35640778
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533239 SCV000653571 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001568042 SCV001791839 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001568042 SCV004150985 benign not provided 2024-06-01 criteria provided, single submitter clinical testing RTEL1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001568042 SCV005210181 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001272647 SCV001454886 benign Dyskeratosis congenita 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573998 SCV001800662 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001573998 SCV001959069 benign not specified 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.