Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001434966 | SCV001637784 | likely benign | Galactosylceramide beta-galactosidase deficiency | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003394049 | SCV004130218 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | GALC: BP4, BP7 |