Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819415 | SCV000960072 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002510988 | SCV002820674 | likely pathogenic | not provided | 2022-07-12 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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: 28135719, 31785789) |