Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626907 | SCV000747610 | uncertain significance | Obesity; Sleep abnormality; Pes planus; Delayed speech and language development; Horizontal nystagmus; Gynecomastia; Generalized hypotonia; Poor motor coordination; Difficulty walking; Hypotonia | 2017-01-01 | criteria provided, single submitter | clinical testing |