Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dan Cohn Lab, |
RCV000516133 | SCV000611979 | pathogenic | Jeune thoracic dystrophy | 2017-06-01 | no assertion criteria provided | research | |
Dan Cohn Lab, |
RCV001291052 | SCV000611989 | pathogenic | Asphyxiating thoracic dystrophy 3 | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV001291052 | SCV001479410 | likely pathogenic | Asphyxiating thoracic dystrophy 3 | no assertion criteria provided | research | ||
University of Washington Center for Mendelian Genomics, |
RCV000516133 | SCV001479568 | likely pathogenic | Jeune thoracic dystrophy | no assertion criteria provided | research |