Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Clinical Genetics, |
RCV002226780 | SCV002505811 | uncertain significance | Failure to thrive; Congenital blindness; Spastic hemiparesis | 2021-08-01 | criteria provided, single submitter | clinical testing | |
Department of Clinical Genetics, |
RCV001527458 | SCV001738508 | likely pathogenic | Combined oxidative phosphorylation defect type 21 | no assertion criteria provided | clinical testing | ||
OMIM | RCV001527458 | SCV002098046 | pathogenic | Combined oxidative phosphorylation defect type 21 | 2022-02-18 | no assertion criteria provided | literature only | |
Houlden Lab, |
RCV001527458 | SCV003035506 | pathogenic | Combined oxidative phosphorylation defect type 21 | no assertion criteria provided | research |