Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000002232 | SCV000193918 | pathogenic | Cornelia de Lange syndrome 1 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002232 | SCV000022390 | pathogenic | Cornelia de Lange syndrome 1 | 2004-10-01 | no assertion criteria provided | literature only |