Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001515104 | SCV001723102 | benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2023-07-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712922 | SCV001942126 | benign | not provided | 2019-03-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271253 | SCV002553620 | likely benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271254 | SCV002553621 | benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002449345 | SCV002752880 | likely benign | Inborn genetic diseases | 2019-03-18 | 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. |