ClinVar Miner

Submissions for variant NM_001735.3(C5):c.3303T>C (p.Cys1101=)

gnomAD frequency: 0.00142  dbSNP: rs145979468
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 RCV000880983 SCV001024118 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478998 SCV002794749 likely benign Complement component 5 deficiency; Eculizumab, poor response to 2022-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940425 SCV004749619 likely benign C5-related disorder 2019-07-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.