Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Medical Genetics and Human Genetics, |
RCV002285209 | SCV002574959 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2022-09-16 | criteria provided, single submitter | clinical testing |