Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002211254 | SCV002497671 | pathogenic | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | ATP7B: PS1, PM1, PM2, PP3, PP4 |
Mayo Clinic Laboratories, |
RCV002211254 | SCV004226646 | likely pathogenic | not provided | 2022-08-24 | criteria provided, single submitter | clinical testing | PP3, PP4, PM2, PM3 |