Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000162101 | SCV000196386 | likely pathogenic | Waddling gait; Marked Hypotonia | 2014-12-01 | no assertion criteria provided | research |