Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409513 | SCV000486662 | likely pathogenic | Bifunctional peroxisomal enzyme deficiency | 2016-07-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488840 | SCV002801729 | likely pathogenic | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 | 2022-02-23 | criteria provided, single submitter | clinical testing |