Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics |
RCV000626469 | SCV000746996 | pathogenic | Saldino-Mainzer syndrome; Joubert syndrome with Jeune asphyxiating thoracic dystrophy | 2018-01-01 | criteria provided, single submitter | research | |
OMIM | RCV000083297 | SCV000115377 | pathogenic | Saldino-Mainzer syndrome | 2013-05-01 | no assertion criteria provided | literature only | |
Dan Cohn Lab, |
RCV000515922 | SCV000612043 | pathogenic | Jeune thoracic dystrophy | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000515922 | SCV001479396 | likely pathogenic | Jeune thoracic dystrophy | no assertion criteria provided | research |