Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146186 | SCV000193418 | likely pathogenic | Kabuki syndrome 1 | 2014-03-07 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000146186 | SCV000781702 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000146186 | SCV003807547 | likely pathogenic | Kabuki syndrome 1 | 2022-10-29 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4 moderated, PM2 moderated, PM4, PM6 moderated |
Biochemical Molecular Genetic Laboratory, |
RCV000146186 | SCV001190746 | likely pathogenic | Kabuki syndrome 1 | 2020-02-05 | no assertion criteria provided | clinical testing | |
Autoinflammatory diseases unit, |
RCV000146186 | SCV001438162 | pathogenic | Kabuki syndrome 1 | 2013-10-01 | no assertion criteria provided | clinical testing |