Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000791035 | SCV000930302 | uncertain significance | Kabuki syndrome 1 | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001873233 | SCV002270128 | uncertain significance | Kabuki syndrome | 2022-11-22 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with KMT2D-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 638391). This variant is present in population databases (rs759377845, gnomAD 0.006%). This variant, c.1893_1919del, results in the deletion of 9 amino acid(s) of the KMT2D protein (p.Asp632_Glu640del), but otherwise preserves the integrity of the reading frame. |