Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001065485 | SCV001230444 | likely benign | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271478 | SCV001452667 | uncertain significance | Chronic granulomatous disease | 2020-01-17 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003945798 | SCV004758775 | likely benign | CYBA-related disorder | 2019-12-20 | 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). |