Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659798 | SCV000781652 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genomic Medicine Lab, |
RCV000659798 | SCV001573035 | pathogenic | Kabuki syndrome 1 | 2020-08-13 | criteria provided, single submitter | clinical testing | |
Autoinflammatory diseases unit, |
RCV000659798 | SCV001438124 | pathogenic | Kabuki syndrome 1 | 2013-10-01 | no assertion criteria provided | clinical testing |