Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wellcome Centre for Mitochondrial Research, |
RCV000984079 | SCV000995084 | likely pathogenic | Mitochondrial disease | 2019-10-09 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001003493 | SCV001161789 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 34 | 2020-02-19 | no assertion criteria provided | literature only |