Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000020645 | SCV000029216 | pathogenic | Niemann-Pick disease type C2 | 2001-11-01 | no assertion criteria provided | literature only | |
Gene |
RCV000020645 | SCV000041170 | pathologic | Niemann-Pick disease type C2 | 2008-07-22 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |