Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673700 | SCV000798935 | uncertain significance | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2018-03-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001815428 | SCV002064045 | likely pathogenic | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | ADA: PM2, PM3, PP4:Moderate, PP3 |