Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000000889 | SCV000021039 | pathogenic | Wrinkly skin syndrome | 2008-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000020688 | SCV000041236 | pathologic | Cutis laxa with osteodystrophy | 2010-09-23 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Department of Genetics, |
RCV000020688 | SCV000891478 | pathogenic | Cutis laxa with osteodystrophy | 2017-12-30 | no assertion criteria provided | curation |