Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000017440 | SCV000037712 | pathogenic | Hyperekplexia 1 | 1994-12-01 | no assertion criteria provided | literature only | |
Gene |
RCV000017440 | SCV000054505 | pathologic | Hyperekplexia 1 | 2012-10-04 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |