Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314511 | SCV000848211 | likely benign | Inborn genetic diseases | 2016-11-04 | 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. |
Invitae | RCV001476788 | SCV001681001 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001619828 | SCV001846383 | benign | not provided | 2015-08-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001809780 | SCV002056651 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing |