ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.344T>C (p.Met115Thr)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003135804 SCV003814298 uncertain significance Diamond-Blackfan anemia 10 2021-04-16 criteria provided, single submitter clinical testing
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV003135804 SCV004013132 likely pathogenic Diamond-Blackfan anemia 10 2021-09-03 criteria provided, single submitter clinical testing
GeneDx RCV003328723 SCV004035601 uncertain significance not provided 2023-03-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20116044, 33718801)
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003135804 SCV004807993 uncertain significance Diamond-Blackfan anemia 10 2024-03-29 criteria provided, single submitter 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.