Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146236 | SCV000193479 | pathogenic | Kabuki syndrome 1 | 2013-08-22 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000146236 | SCV000781610 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Autoinflammatory diseases unit, |
RCV000146236 | SCV001438183 | pathogenic | Kabuki syndrome 1 | 2015-11-12 | no assertion criteria provided | clinical testing |