Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000544469 | SCV000653592 | benign | Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980012 | SCV004794086 | benign | CARD11-related disorder | 2019-07-08 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |