Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258631 | SCV000320891 | uncertain significance | Short stature; Growth delay; Abnormal facial shape; Microcephaly; Intellectual disability; Decreased body weight; Abnormal digit morphology; Heart murmur | 2016-08-20 | criteria provided, single submitter | research |