Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics |
RCV000626457 | SCV000746983 | pathogenic | Saldino-Mainzer syndrome | 2018-01-01 | criteria provided, single submitter | research | |
Laboratory of Medical Genetics |
RCV000626458 | SCV000746984 | pathogenic | Saldino-Mainzer syndrome; Joubert syndrome with Jeune asphyxiating thoracic dystrophy | 2018-01-01 | criteria provided, single submitter | research | |
Laboratory of Medical Genetics |
RCV000626459 | SCV000746985 | pathogenic | Saldino-Mainzer syndrome; Cranioectodermal dysplasia | 2018-01-01 | criteria provided, single submitter | research |