Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723481 | SCV000230781 | pathogenic | not provided | 2014-08-18 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000007972 | SCV000781686 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001043636 | SCV001207392 | pathogenic | Kabuki syndrome | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000007972 | SCV004171249 | pathogenic | Kabuki syndrome 1 | 2023-11-30 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000007972 | SCV000028177 | pathogenic | Kabuki syndrome 1 | 2010-09-01 | no assertion criteria provided | literature only | |
Autoinflammatory diseases unit, |
RCV000007972 | SCV001438151 | pathogenic | Kabuki syndrome 1 | 2015-05-27 | no assertion criteria provided | clinical testing |