Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001636602 | SCV001850371 | benign | not provided | 2021-01-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 12858176, 21050867, 20981092, 22306327) |
Invitae | RCV001636602 | SCV002355044 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000017511 | SCV000037783 | uncertain significance | Cortisone reductase deficiency 1 | 2008-10-01 | no assertion criteria provided | literature only |