ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.411G>C (p.Gly137=)

gnomAD frequency: 0.00003  dbSNP: rs148298128
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 RCV001430948 SCV001633697 likely benign Immunodeficiency 25 2024-05-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711260 SCV005258029 likely benign not provided criteria provided, single submitter not provided

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.