Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Genetics, |
RCV000241536 | SCV000891604 | uncertain significance | Glutamate pyruvate transaminase 2 deficiency | 2017-12-30 | criteria provided, single submitter | curation | |
OMIM | RCV000241536 | SCV000301457 | pathogenic | Glutamate pyruvate transaminase 2 deficiency | 2020-11-05 | no assertion criteria provided | literature only |