Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV001027855 | SCV001190486 | uncertain significance | Desmosterolosis | 2020-01-10 | criteria provided, single submitter | research | ACMG codes: PM2, PP4 |