Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313656 | SCV000848855 | likely benign | Inborn genetic diseases | 2017-01-23 | 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. |
Invitae | RCV000876455 | SCV001019029 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001655581 | SCV001869715 | benign | not provided | 2020-03-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001809782 | SCV002056643 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001809782 | SCV002800484 | likely benign | Developmental and epileptic encephalopathy, 5 | 2021-12-01 | criteria provided, single submitter | clinical testing |