Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001706846 | SCV001934372 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2020-12-18 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |