Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820268 | SCV000960974 | likely benign | Developmental and epileptic encephalopathy, 31 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692288 | SCV001907000 | benign | not provided | 2020-03-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442750 | SCV002735276 | likely benign | Inborn genetic diseases | 2017-09-15 | 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. |