ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=)

gnomAD frequency: 0.00353  dbSNP: rs35877957
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525211 SCV000653559 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001551628 SCV001772170 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001551628 SCV001962406 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing RTEL1: BP4, BP7, BS2
Sema4, Sema4 RCV002255461 SCV002535276 likely benign Dyskeratosis congenita 2021-02-13 criteria provided, single submitter curation
Ambry Genetics RCV002448784 SCV002732204 likely benign Inborn genetic diseases 2022-03-07 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.
Breakthrough Genomics, Breakthrough Genomics RCV001551628 SCV005210169 likely benign not provided criteria provided, single submitter not provided

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.