Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000010343 | SCV000030569 | pathogenic | Leigh syndrome due to mitochondrial complex I deficiency | 2003-06-10 | no assertion criteria provided | literature only | |
OMIM | RCV000010344 | SCV000030570 | pathogenic | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2003-06-10 | no assertion criteria provided | literature only | |
Gene |
RCV000010344 | SCV004042638 | not provided | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | no assertion provided | literature only |