Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000995552 | SCV001149787 | pathogenic | GM1 gangliosidosis type 2 | 2019-06-11 | criteria provided, single submitter | clinical testing |