Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV004566687 | SCV005056209 | pathogenic | Aplastic anemia | 2023-11-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000007356 | SCV000027555 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 1998-05-01 | no assertion criteria provided | literature only | |
Gene |
RCV000007356 | SCV000494631 | not provided | Microcephaly, normal intelligence and immunodeficiency | no assertion provided | literature only |