Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001724782 | SCV001950102 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2021-07-01 | criteria provided, single submitter | clinical testing |