Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000006744 | SCV000026936 | pathogenic | Hermansky Pudlak syndrome 2 | 1999-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000006744 | SCV000041034 | pathologic | Hermansky Pudlak syndrome 2 | 2012-10-11 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |