Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Genetics, |
RCV000133571 | SCV000148641 | pathogenic | Baraitser-Winter syndrome 1 | 2014-04-15 | no assertion criteria provided | clinical testing | |
OMIM | RCV000133571 | SCV000238554 | pathogenic | Baraitser-Winter syndrome 1 | 2014-07-23 | no assertion criteria provided | literature only | |
Gene |
RCV002055273 | SCV000257373 | not provided | Baraitser-Winter syndrome | no assertion provided | literature only | Assoc w/severe phenotype [Di Donato et al 2014] |