Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV003990269 | SCV004806730 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2024-03-26 | criteria provided, single submitter | clinical testing |