Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001260492 | SCV001437511 | pathogenic | Koolen-de Vries syndrome | 2020-06-16 | criteria provided, single submitter | clinical testing | The KANSL1 variant c.3046dupG is not found in the gnomAD database. The mutation has been occurred de novo. The variant c.3046dupG in KANSL1 causes a frameshift and possibly also haploinsufficency. Thus, we consider this variant to be pathogenic. ACMG criteria used for classification: PVS1_vstr, PM2. |