Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Biochemistry Laboratory, |
RCV003460485 | SCV004190338 | likely pathogenic | CYP11B2-related disorder | 2023-11-20 | criteria provided, single submitter | clinical testing | ACMG:PM2 PM3 PP4 PP5 |
OMIM | RCV000018381 | SCV000038663 | pathogenic | Corticosterone methyloxidase type 2 deficiency | 2003-06-01 | no assertion criteria provided | literature only |