Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Medical Genetics, |
RCV000008446 | SCV001437551 | pathogenic | Saethre-Chotzen syndrome | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000008446 | SCV000028654 | pathogenic | Saethre-Chotzen syndrome | 2001-12-15 | no assertion criteria provided | literature only |