Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000144485 | SCV002788899 | pathogenic | Mitochondrial complex 4 deficiency, nuclear type 17 | 2021-07-20 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000144485 | SCV000189804 | pathogenic | Mitochondrial complex 4 deficiency, nuclear type 17 | 2014-09-04 | no assertion criteria provided | literature only |