Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000711166 | SCV000564880 | uncertain significance | not provided | 2021-10-29 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21683344) |
Invitae | RCV000537667 | SCV000658088 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711166 | SCV000841496 | uncertain significance | not provided | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Psychiatry Genetics Yale University | RCV000084615 | SCV000116751 | not provided | Tobacco use disorder | no assertion provided | not provided |