Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Center for Mendelian Genomics, |
RCV000755108 | SCV000882928 | likely pathogenic | Asphyxiating thoracic dystrophy 3 | 2016-12-07 | no assertion criteria provided | research |