Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085748 | SCV000560881 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711824 | SCV000842229 | benign | not provided | 2018-03-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311792 | SCV000846904 | likely benign | Inborn genetic diseases | 2016-06-13 | 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 |
RCV000711824 | SCV001860101 | benign | not provided | 2018-12-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000711824 | SCV004010489 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | GNAO1: BP4, BP7, BS1 |