Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatric Immunology Service, |
RCV000681573 | SCV000693921 | likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Recombinase activating gene 2 deficiency; Inborn error of immunity | 2018-03-06 | criteria provided, single submitter | research | |
OMIM | RCV000014017 | SCV000034264 | pathogenic | Severe combined immunodeficiency, B cell-negative | 2001-05-01 | no assertion criteria provided | literature only | |
OMIM | RCV000014018 | SCV000034265 | pathogenic | Histiocytic medullary reticulosis | 2001-05-01 | no assertion criteria provided | literature only |