Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001729699 | SCV001977518 | pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Laboratory of Pediatric Immunoinfectivology, |
RCV000766120 | SCV000897598 | pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2019-02-28 | no assertion criteria provided | clinical testing | SCID (Severe Combined Immunodeficiency) T-B-NK+; Hyper-IgM |