Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000416094 | SCV000242655 | benign | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing | Reported previously an individual with infantile spasms and mild intellectual disability; however, family studies were not performed (Wallace et al., 2003); This substitution is within the C-terminal cytoplasmic domain of the protein (Escayg et al., 2010); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 23527921, 14504318) |
Ce |
RCV000416094 | SCV000493672 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | SCN1A: PP2, BS2 |
Invitae | RCV000537890 | SCV000633877 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764283 | SCV000895302 | 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 | |
Mendelics | RCV002247465 | SCV002516801 | likely benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Uni |
RCV000059551 | SCV000091083 | not provided | West syndrome | no assertion provided | not provided |