Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659813 | SCV000781672 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268133 | SCV001446811 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Autoinflammatory diseases unit, |
RCV000659813 | SCV001438140 | pathogenic | Kabuki syndrome 1 | 2013-10-01 | no assertion criteria provided | clinical testing |