Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000444554 | SCV000511293 | uncertain significance | not provided | 2016-04-22 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Invitae | RCV000654309 | SCV000776199 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000444554 | SCV001796715 | uncertain significance | not provided | 2020-09-02 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |