Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001004691 | SCV001164151 | likely pathogenic | Developmental and epileptic encephalopathy, 14 | 2017-03-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585917 | SCV001811230 | pathogenic | not provided | 2021-03-11 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26633542) |
Institute of Human Genetics, |
RCV003128256 | SCV003804660 | likely pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2023-02-06 | criteria provided, single submitter | clinical testing | This variant was identified together with the variants: _x000D_NM_013450.4:c.319_320del and NM_013450.4:c.5797-1G>C. Criteria applied: PM5_STR, PS4_MOD, PM2_SUP |