Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673116 | SCV000798284 | uncertain significance | Deficiency of steroid 11-beta-monooxygenase | 2018-03-09 | criteria provided, single submitter | clinical testing | |
Clinical Biochemistry Laboratory, |
RCV000673116 | SCV004190260 | pathogenic | Deficiency of steroid 11-beta-monooxygenase | 2023-11-20 | criteria provided, single submitter | clinical testing | ACMG:PS3 PM1 PM2 PM3 PP3 PP4 |