Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000005494 | SCV000025676 | pathogenic | Spondylocostal dysostosis 2, autosomal recessive | 2008-06-01 | no assertion criteria provided | literature only | |
Gene |
RCV000005494 | SCV000055732 | pathologic | Spondylocostal dysostosis 2, autosomal recessive | 2010-08-05 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |