Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670516 | SCV000795376 | likely benign | Bifunctional peroxisomal enzyme deficiency | 2017-11-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001448029 | SCV001651110 | likely benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2023-12-23 | criteria provided, single submitter | clinical testing |