Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000863125 | SCV001003728 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672475 | SCV001887087 | benign | not provided | 2019-05-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411201 | SCV002676218 | benign | Inborn genetic diseases | 2019-05-01 | 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. |