ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser)

gnomAD frequency: 0.00001  dbSNP: rs120074166
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004698821 SCV005200860 uncertain significance not provided 2024-06-05 criteria provided, single submitter clinical testing PM2, PM3, PP3
OMIM RCV000003328 SCV000023486 pathogenic Congenital dyserythropoietic anemia, type I 2003-07-01 no assertion criteria provided literature only

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.