Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989659 | SCV001140191 | likely pathogenic | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | 2019-05-28 | criteria provided, single submitter | clinical testing | |
DASA | RCV000201945 | SCV002061195 | likely pathogenic | KBG syndrome | 2022-01-05 | criteria provided, single submitter | clinical testing | The variant creates a premature translational stop signal c.7180C>T;p.(Gln2394*) in ANKRD11 gene. It is expected to result in an absent or disrupted protein product - PVS1.This variant is not present in population databases (rs863225296, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic. |