Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000010339 | SCV000030565 | pathogenic | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2003-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000010339 | SCV004042636 | not provided | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | no assertion provided | literature only |