Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258781 | SCV000320769 | pathogenic | Epicanthus; Craniosynostosis syndrome; Global developmental delay; Growth delay; Abnormal facial shape; Broad thumb; Cafe-au-lait spot; Depressed nasal bridge; Overlapping toe; Short philtrum; Hypoplastic labia majora; Thin upper lip vermilion; Microcephaly; Strabismus; Accelerated skeletal maturation; Multiple palmar creases; Broad hallux phalanx | 2016-08-20 | criteria provided, single submitter | research |