Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000490936 | SCV000282217 | likely pathogenic | Global developmental delay; Patent foramen ovale; Hypoplasia of the corpus callosum; Anteriorly placed anus; Microcephaly; Cerebellar malformation; Macule; Ventricular septal defect | 2016-01-10 | no assertion criteria provided | research |