Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institut IMAGINE, |
RCV000201531 | SCV000255973 | pathogenic | Acyl-CoA dehydrogenase 9 deficiency | 2015-08-30 | no assertion criteria provided | clinical testing | predicted to be deleterious using three different prediction softwares, namely SIFT, MutationTaster and Polyphen-2 |