Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000239637 | SCV000965723 | likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 2015-01-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000239637 | SCV000298164 | pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 2010-10-15 | no assertion criteria provided | literature only |