Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000541512 | SCV000652942 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001532660 | SCV000718597 | likely benign | not provided | 2019-06-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001532660 | SCV001748324 | likely benign | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270652 | SCV002553655 | likely benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270653 | SCV002553656 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002324039 | SCV002609805 | likely benign | Inborn genetic diseases | 2019-02-23 | 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. |