Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002074948 | SCV002430172 | benign | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500112 | SCV002808100 | likely benign | Complement component 5 deficiency; Eculizumab, poor response to | 2021-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003978777 | SCV004789447 | likely benign | C5-related disorder | 2019-04-19 | criteria provided, single submitter | 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). |