Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002245907 | SCV002512824 | pathogenic | not provided | 2022-04-25 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34547584, Martinez-Cayuelas2022[article]) |
Equipe Genetique des Anomalies du Developpement, |
RCV001261255 | SCV003843204 | pathogenic | KBG syndrome | 2020-03-30 | criteria provided, single submitter | clinical testing | |
Autoinflammatory diseases unit, |
RCV001261255 | SCV001438094 | likely pathogenic | KBG syndrome | 2016-04-29 | no assertion criteria provided | clinical testing |