Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV004584594 | SCV005074849 | pathogenic | not provided | 2024-09-01 | criteria provided, single submitter | clinical testing | DLL3: PVS1, PM3:Strong, PM2, PP4 |
OMIM | RCV000007233 | SCV000027429 | pathogenic | Spondylocostal dysostosis 1, autosomal recessive | 2003-07-01 | no assertion criteria provided | literature only |