Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001458841 | SCV001662670 | likely benign | Galactosylceramide beta-galactosidase deficiency | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003394063 | SCV004130220 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | GALC: BP4, BP7 |