Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000423756 | SCV000524650 | benign | not provided | 2019-07-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000460634 | SCV000562980 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808813 | SCV002056701 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356564 | SCV002657024 | benign | Inborn genetic diseases | 2019-06-21 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |