Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003326511 | SCV004032990 | likely pathogenic | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | MRPS14: PM2, PM3, PP3, PS3:Supporting |
OMIM | RCV000766271 | SCV000897728 | pathogenic | Combined oxidative phosphorylation deficiency 38 | 2019-04-08 | no assertion criteria provided | literature only |