Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001483353 | SCV001687742 | likely benign | Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003946261 | SCV004765400 | likely benign | IRF8-related disorder | 2019-03-26 | 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). |