Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000779611 | SCV001146806 | likely pathogenic | Combined oxidative phosphorylation defect type 24 | 2019-08-28 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Combined oxidative phosphorylation deficiency 24, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP1, PS3-Moderate, PVS1-Moderate. |
Revvity Omics, |
RCV001784392 | SCV002018204 | pathogenic | not provided | 2019-11-26 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000779611 | SCV000916290 | pathogenic | Combined oxidative phosphorylation defect type 24 | 2019-05-28 | no assertion criteria provided | literature only |