Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146159 | SCV000193384 | pathogenic | Kabuki syndrome 1 | 2013-08-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000624920 | SCV000742681 | pathogenic | Inborn genetic diseases | 2017-06-27 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000146159 | SCV000781655 | pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000707588 | SCV000836689 | pathogenic | Kabuki syndrome | 2018-05-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg4198*) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Kabuki syndrome (PMID: 28295206, 26300940, 23320472, 27302555). ClinVar contains an entry for this variant (Variation ID: 158722). Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000146159 | SCV000893301 | pathogenic | Kabuki syndrome 1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548390 | SCV001768292 | pathogenic | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 24739679, 28884922, 27302555, 31935506, 23320472, 22126750, 28991257) |
Autoinflammatory diseases unit, |
RCV000146159 | SCV001438126 | pathogenic | Kabuki syndrome 1 | 2014-06-05 | no assertion criteria provided | clinical testing |