Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV001729346 | SCV001976829 | likely pathogenic | X-linked sideroblastic anemia 1 | 2021-10-05 | criteria provided, single submitter | clinical testing | PM2, PP2, PP3, PP5 |
OMIM | RCV000011219 | SCV000031446 | pathogenic | Sideroblastic anemia 1, late-onset | 1995-10-01 | no assertion criteria provided | literature only |