Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV001254071 | SCV001429985 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2020-02-19 | criteria provided, single submitter | clinical testing |