Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000023385 | SCV000044676 | pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 2011-06-07 | no assertion criteria provided | literature only | |
Gene |
RCV000119013 | SCV000153711 | not provided | RRM2B-related mitochondrial disease | no assertion provided | literature only | ||
Wellcome Centre for Mitochondrial Research, |
RCV000508947 | SCV000575917 | pathogenic | Mitochondrial disease | 2017-04-07 | no assertion criteria provided | clinical testing |