Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000515541 | SCV000611565 | pathogenic | Cornelia de Lange syndrome 5 | 2016-11-30 | no assertion criteria provided | clinical testing |