ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1887T>C (p.His629=)

gnomAD frequency: 0.00001  dbSNP: rs749159797
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001453486 SCV001657181 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832586 SCV002090844 likely benign Athabaskan severe combined immunodeficiency 2021-09-23 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.