Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Paris Brain Institute, |
RCV000004658 | SCV001451110 | pathogenic | Infantile-onset ascending hereditary spastic paralysis | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000004658 | SCV000024832 | pathogenic | Infantile-onset ascending hereditary spastic paralysis | 2002-09-01 | no assertion criteria provided | literature only | |
Gene |
RCV000004658 | SCV000058624 | pathologic | Infantile-onset ascending hereditary spastic paralysis | 2011-02-10 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |