Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003311852 | SCV004011501 | pathogenic | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | CP: PP4:Strong, PVS1:Strong, PM2, PS4:Supporting |
Dept of Medicine and Surgery, |
RCV000584747 | SCV000679753 | pathogenic | Deficiency of ferroxidase | 2009-01-01 | no assertion criteria provided | clinical testing |