ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=)

gnomAD frequency: 0.00222  dbSNP: rs115524993
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000527136 SCV000645217 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2025-01-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001724052 SCV001477549 likely benign not provided 2024-08-28 criteria provided, single submitter clinical testing
GeneDx RCV001724052 SCV001950537 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005239183 SCV005883024 likely benign not specified 2024-12-06 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.