Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000654348 | SCV000776238 | benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001724118 | SCV001950449 | benign | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26309560) |
Ambry Genetics | RCV002334205 | SCV002634819 | likely benign | Inborn genetic diseases | 2017-09-28 | 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. |