Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001343861 | SCV001537879 | likely benign | Cortical dysplasia-focal epilepsy syndrome | 2022-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001776207 | SCV002012663 | uncertain significance | not provided | 2021-11-05 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002395752 | SCV002700376 | likely benign | Inborn genetic diseases | 2017-12-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |