Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Caldovic Lab, |
RCV000627036 | SCV000612173 | likely pathogenic | Ornithine carbamoyltransferase deficiency | 2017-12-12 | no assertion criteria provided | research | The patient had clinical and biochemical symptoms of OTC deficiency, and no disease causing sequence variants in the OTC coding sequence and canonical splice sites. Functional testing in cultured cells indicates reduced expression of reporter gene. |