Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410643 | SCV000485389 | likely pathogenic | Bifunctional peroxisomal enzyme deficiency | 2015-11-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000410643 | SCV004192369 | likely pathogenic | Bifunctional peroxisomal enzyme deficiency | 2023-10-22 | criteria provided, single submitter | clinical testing |