ClinVar Miner

Submissions for variant NM_001735.3(C5):c.1929C>G (p.Ala643=)

gnomAD frequency: 0.00029  dbSNP: rs56371452
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002110769 SCV002436833 likely benign not provided 2025-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494378 SCV002803154 likely benign Complement component 5 deficiency; Eculizumab, poor response to 2021-08-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005239265 SCV005885946 benign not specified 2025-02-19 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.