Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001843847 | SCV002103024 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2022-02-01 | criteria provided, single submitter | clinical testing | PS2, PM2, PP2 |