ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr)

gnomAD frequency: 0.00024  dbSNP: rs192268080
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
Mayo Clinic Laboratories, Mayo Clinic RCV001509480 SCV001716216 uncertain significance not provided 2020-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509480 SCV003247542 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145682 SCV003829438 benign Anemia, congenital dyserythropoietic, type 1a 2023-12-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003145682 SCV005879686 likely benign Anemia, congenital dyserythropoietic, type 1a 2024-11-04 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.