Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center For Human Genetics And Laboratory Diagnostics, |
RCV000678910 | SCV000805114 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2018-05-15 | criteria provided, single submitter | research |