Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000414962 | SCV000492607 | likely pathogenic | Short stature; Hearing impairment; Hypothyroidism; Myopia; Intellectual disability; Truncal obesity; Short metacarpal | 2016-02-26 | no assertion criteria provided | clinical testing |