Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemical Molecular Genetic Laboratory, |
RCV000985173 | SCV001133182 | likely pathogenic | Poikiloderma with neutropenia | 2019-09-26 | no assertion criteria provided | clinical testing |