Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638428 | SCV000759943 | pathogenic | Kabuki syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000659795 | SCV000781649 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing |