Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001221185 | SCV001393211 | pathogenic | Koolen-de Vries syndrome | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1011*) in the KANSL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KANSL1 are known to be pathogenic (PMID: 22544363, 22544367). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 949673). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001221185 | SCV002016757 | likely pathogenic | Koolen-de Vries syndrome | 2021-09-22 | criteria provided, single submitter | clinical testing |