Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258548 | SCV000320852 | likely pathogenic | Epicanthus; Seizure; Tapered finger; Spasticity; Microtia; Abnormal facial shape; Absent speech; Downslanted palpebral fissures; Preauricular pit; Specific learning disability; Penile hypospadias; Microcephaly; Microretrognathia; Atresia of the external auditory canal; Abnormality of vision; Inability to walk; Posteriorly placed tongue; Intellectual disability, severe | 2016-08-20 | criteria provided, single submitter | research |