Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000893427 | SCV001037359 | benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273797 | SCV001457295 | benign | Bifunctional peroxisomal enzyme deficiency | 2020-01-05 | no assertion criteria provided | clinical testing |