Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000300426 | SCV000456059 | uncertain significance | Generalized epilepsy with febrile seizures plus | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000334501 | SCV000456060 | uncertain significance | Severe myoclonic epilepsy in infancy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314073 | SCV000847840 | benign | Inborn genetic diseases | 2017-07-19 | 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. |