Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins NTD LLC |
RCV000593278 | SCV000703160 | uncertain significance | not provided | 2016-12-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000636263 | SCV000757702 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2021-09-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764281 | SCV000895300 | uncertain significance | Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000593278 | SCV001792583 | uncertain significance | not provided | 2019-09-30 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be within the C-terminal cytoplasmic domain. |