Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665482 | SCV000789612 | likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2017-02-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003311877 | SCV004011337 | pathogenic | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | ADA: PVS1, PM2 |