ClinVar Miner

Submissions for variant NM_001283010.1(RTEL1):c.-407C>T (rs758172246)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768302 SCV000898937 uncertain significance Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 2018-09-12 criteria provided, single submitter clinical testing RTEL1 NM_032957.4 exon 3 p.Ser88Phe (c.263C>T): This variant has not been reported in the literature but is present in 1/30778 South Asian alleles in the Genome Aggregation Database ( Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.