Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705045 | SCV000243080 | benign | not provided | 2021-03-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000458281 | SCV000553139 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808484 | SCV002056648 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433857 | SCV002749003 | benign | Inborn genetic diseases | 2019-11-26 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |