Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258691 | SCV000320760 | pathogenic | Epicanthus; Short phalanx of finger; Hypertonia; Brachycephaly; Deeply set eye; Macrotia; Short nose; Wide mouth; Hydrocele testis; Umbilical hernia; Hypoplastic nasal bridge | 2016-08-20 | criteria provided, single submitter | research |