Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875419 | SCV001017741 | likely benign | Galactosylceramide beta-galactosidase deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392663 | SCV004130223 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | GALC: BP4, BP7 |
Natera, |
RCV000875419 | SCV001454065 | likely benign | Galactosylceramide beta-galactosidase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |