Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087223 | SCV000563065 | benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311796 | SCV000846744 | likely benign | Inborn genetic diseases | 2016-10-31 | 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 |
RCV000767315 | SCV001836195 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496845 | SCV002805104 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to | 2021-08-04 | criteria provided, single submitter | clinical testing | |
Seelig Lab, |
RCV000767315 | SCV000897880 | not provided | not provided | no assertion provided | in vitro |