Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001450298 | SCV001653900 | likely benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001832581 | SCV002075403 | likely benign | Bifunctional peroxisomal enzyme deficiency | 2020-06-08 | no assertion criteria provided | clinical testing |