Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000893427 | SCV001037359 | benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2024-10-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV004808947 | SCV005436352 | benign | not provided | 2024-09-01 | criteria provided, single submitter | clinical testing | HSD17B4: BP4, BS1, BS2 |
Natera, |
RCV001273797 | SCV001457295 | benign | Bifunctional peroxisomal enzyme deficiency | 2020-01-05 | no assertion criteria provided | clinical testing |