Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000049977 | SCV000025737 | pathogenic | Mulibrey nanism syndrome | 2000-07-01 | no assertion criteria provided | literature only | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049977 | SCV000082386 | probable-pathogenic | Mulibrey nanism syndrome | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |