Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659718 | SCV000781566 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001233752 | SCV001406361 | pathogenic | Kabuki syndrome | 2019-07-18 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). This variant has been observed in an individual with clinical features of Kabuki syndrome (PMID: 25896430). ClinVar contains an entry for this variant (Variation ID: 547421). This sequence change creates a premature translational stop signal (p.Lys1466Glnfs*25) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. |
Laboratory of Medical Genetics, |
RCV000659718 | SCV004171085 | pathogenic | Kabuki syndrome 1 | criteria provided, single submitter | clinical testing | ||
Medical Genetics Center, |
RCV000659718 | SCV004847178 | pathogenic | Kabuki syndrome 1 | 2023-02-01 | criteria provided, single submitter | clinical testing |