Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124289 | SCV000167716 | benign | not specified | 2013-10-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000456365 | SCV000563077 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-09-22 | criteria provided, single submitter | clinical testing | |
Psychiatry Genetics Yale University | RCV000084604 | SCV000116740 | not provided | Tobacco use disorder | no assertion provided | not provided |