Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001311026 | SCV000243078 | likely benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000808941 | SCV000949074 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001311026 | SCV001501046 | likely benign | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808483 | SCV002056647 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444768 | SCV002733053 | likely benign | Inborn genetic diseases | 2019-12-16 | 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. |
Fulgent Genetics, |
RCV001808483 | SCV002809653 | benign | Developmental and epileptic encephalopathy, 5 | 2022-04-15 | criteria provided, single submitter | clinical testing |