Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Skeletal Dysplasia Laboratory, |
RCV003225766 | SCV002589128 | pathogenic | Saethre-Chotzen syndrome | 2022-11-04 | no assertion criteria provided | clinical testing |