Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000590900 | SCV000700174 | likely pathogenic | Developmental and epileptic encephalopathy, 4 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003225094 | SCV003921227 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Molecular Genetics Laboratory, |
RCV000590900 | SCV000898146 | pathogenic | Developmental and epileptic encephalopathy, 4 | 2018-11-26 | no assertion criteria provided | clinical testing |