Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667306 | SCV000791737 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000667306 | SCV002788012 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2021-11-10 | criteria provided, single submitter | clinical testing |