Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317866 | SCV000851123 | likely benign | Inborn genetic diseases | 2016-07-26 | 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 |
RCV000862600 | SCV001862317 | likely benign | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002061317 | SCV002419207 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000862600 | SCV004156430 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | SPTAN1: BP4, BP7 |