Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705050 | SCV000243149 | likely benign | not provided | 2018-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000475339 | SCV000553147 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354535 | SCV002620171 | likely benign | Inborn genetic diseases | 2018-05-02 | 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. |