Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Autoinflammatory diseases unit, |
RCV001261231 | SCV001438251 | likely pathogenic | Hirsutism; Intellectual disability | 2019-03-13 | no assertion criteria provided | clinical testing |