Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258775 | SCV000320751 | likely pathogenic | Hemangioma; Macrocephaly; Prominent occiput; 3-5 finger syndactyly; Prominent forehead; Severe global developmental delay; Hypotonia | 2016-08-20 | criteria provided, single submitter | research |