Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488074 | SCV000575605 | likely benign | not provided | 2021-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087838 | SCV000652956 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000488074 | SCV000732119 | likely benign | not provided | 2019-03-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270584 | SCV002553698 | likely benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270585 | SCV002553699 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002455943 | SCV002615111 | likely benign | Inborn genetic diseases | 2017-09-26 | 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. |