Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000476975 | SCV000562985 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436518 | SCV002746824 | likely benign | Inborn genetic diseases | 2017-06-30 | 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. |