Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659808 | SCV000781665 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001446522 | SCV001649570 | likely benign | Kabuki syndrome | 2022-10-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000872429 | SCV001771513 | likely benign | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Prevention |
RCV004533448 | SCV004747982 | likely benign | KMT2D-related disorder | 2022-05-06 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |