Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000398655 | SCV000456061 | uncertain significance | Generalized epilepsy with febrile seizures plus | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000313505 | SCV000456062 | uncertain significance | Severe myoclonic epilepsy in infancy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311422 | SCV000846045 | likely benign | Inborn genetic diseases | 2018-04-05 | 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 |
RCV001551998 | SCV001772609 | likely benign | not provided | 2020-02-21 | criteria provided, single submitter | clinical testing |