Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wellcome Centre for Mitochondrial Research, |
RCV000680374 | SCV000787627 | pathogenic | Mitochondrial disease | 2018-07-19 | no assertion criteria provided | clinical testing | |
OMIM | RCV000709999 | SCV000840364 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 33 | 2018-12-13 | no assertion criteria provided | literature only |