Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000006120 | SCV000026302 | pathogenic | Hyperekplexia 3 | 2006-07-01 | no assertion criteria provided | literature only | |
Gene |
RCV000006120 | SCV000054574 | pathologic | Hyperekplexia 3 | 2012-10-04 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |