Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000017447 | SCV000037719 | pathogenic | Hyperekplexia 1 | 2001-09-01 | no assertion criteria provided | literature only | |
Gene |
RCV000017447 | SCV000054501 | pathologic | Hyperekplexia 1 | 2012-10-04 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |