Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146185 | SCV000193417 | pathogenic | Kabuki syndrome 1 | 2013-12-02 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000724586 | SCV000231319 | pathogenic | not provided | 2015-02-05 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000146185 | SCV000781700 | pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000818696 | SCV000959322 | pathogenic | Kabuki syndrome | 2019-10-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn5480Valfs*6) 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 an individual affected with Kabuki syndrome (PMID: 21671394). ClinVar contains an entry for this variant (Variation ID: 158744). Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). For these reasons, this variant has been classified as Pathogenic. |
Autoinflammatory diseases unit, |
RCV000146185 | SCV001438205 | pathogenic | Kabuki syndrome 1 | 2018-06-22 | no assertion criteria provided | clinical testing |