Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000004497 | SCV000024671 | pathogenic | Lethal tight skin contracture syndrome | 2009-07-01 | no assertion criteria provided | literature only | |
ZMPSTE24 homepage - |
RCV000128755 | SCV000172395 | not provided | not provided | no assertion provided | not provided |