Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000585038 | SCV000242548 | likely benign | not provided | 2021-04-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 20729507, 21719429, 27231140, 26990884, 33108073, 28005047) |
Ce |
RCV000585038 | SCV000693018 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001453714 | SCV001657413 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415520 | SCV002678831 | likely benign | Inborn genetic diseases | 2018-04-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Uni |
RCV000059458 | SCV000090983 | not provided | Generalized epilepsy with febrile seizures plus, type 1 | no assertion provided | not provided |