Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000437950 | SCV000510594 | uncertain significance | not provided | 2017-02-09 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Gene |
RCV000614942 | SCV000726264 | likely benign | not specified | 2018-01-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001440283 | SCV001643189 | likely benign | Developmental and epileptic encephalopathy 94 | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Bioinformatics Core, |
RCV000656035 | SCV000588311 | pathogenic | Childhood epilepsy with centrotemporal spikes | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |