Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dan Cohn Lab, |
RCV000515999 | SCV000611978 | pathogenic | Jeune thoracic dystrophy | 2017-06-01 | no assertion criteria provided | research | |
Dan Cohn Lab, |
RCV001291155 | SCV000612106 | likely pathogenic | Asphyxiating thoracic dystrophy 3 | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV001291155 | SCV001479535 | likely pathogenic | Asphyxiating thoracic dystrophy 3 | no assertion criteria provided | research | ||
University of Washington Center for Mendelian Genomics, |
RCV000515999 | SCV001479746 | likely pathogenic | Jeune thoracic dystrophy | no assertion criteria provided | research |