ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1249T>G (p.Ser417Ala)

dbSNP: rs1013537366
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563936 SCV001786997 uncertain significance Histiocytic medullary reticulosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563937 SCV001786998 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2021-07-14 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.