Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001429597 | SCV001632314 | likely benign | T-B+ severe combined immunodeficiency due to JAK3 deficiency | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900476 | SCV004712784 | likely benign | JAK3-related disorder | 2024-01-24 | 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). |