Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514914 | SCV000609639 | likely benign | not provided | 2017-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001504628 | SCV001709514 | likely benign | Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 | 2021-05-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514914 | SCV004012558 | uncertain significance | not provided | 2023-01-05 | criteria provided, single submitter | clinical testing | Published in vitro functional assays indicate that p.(R147W) does not reduce current or expression but does significantly alter channel gating and is predicted to result in structural perturbations (Hernandez et al., 2016); 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: 29273096, 26934580, 27622563) |