Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513541 | SCV000608723 | likely pathogenic | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000513541 | SCV005414286 | pathogenic | not provided | 2024-03-19 | criteria provided, single submitter | clinical testing | PP1, PM2, PM3_supporting, PVS1 |
OMIM | RCV000119835 | SCV000154761 | pathogenic | Combined oxidative phosphorylation defect type 15 | 2014-03-01 | no assertion criteria provided | literature only |