Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UNC Molecular Genetics Laboratory, |
RCV001095677 | SCV001251450 | likely pathogenic | Combined oxidative phosphorylation defect type 8 | criteria provided, single submitter | research | This variant is predicted to alter a canonical mRNA splice acceptor site; however to our knowledge has not been reported in the literature. |