Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV002468757 | SCV002764813 | pathogenic | Seizure; Dysphagia; Microcephaly; Severe global developmental delay | 2021-12-22 | criteria provided, single submitter | clinical testing | |
OMIM | RCV003226545 | SCV003922386 | pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 | 2023-05-04 | no assertion criteria provided | literature only |