Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258556 | SCV000320873 | uncertain significance | Inversion of nipple; Global developmental delay; Short stature; Failure to thrive; Abnormal facial shape; Agenesis of permanent teeth; Cafe-au-lait spot; Delayed speech and language development; Prominent nose; Numerous nevi; Decreased body weight; Attached earlobe; Prominent digit pad; Hypotonia | 2016-08-20 | criteria provided, single submitter | research |