Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001706809 | SCV001934319 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2020-11-12 | criteria provided, single submitter | clinical testing | Criteria applied: PS2_MOD, PMI_SUP, PM2-SUP, PM5-SUP, PP2 |