Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000960529 | SCV001107514 | benign | Combined immunodeficiency due to LRBA deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905821 | SCV004731434 | likely benign | LRBA-related condition | 2019-06-25 | 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). |