Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316819 | SCV000850574 | likely benign | Inborn genetic diseases | 2017-03-31 | 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. |
Gene |
RCV000837470 | SCV000979325 | benign | not provided | 2021-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087103 | SCV001007316 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-10 | criteria provided, single submitter | clinical testing |