Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000914608 | SCV001059790 | likely benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001788377 | SCV002031029 | likely benign | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing |