Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487529 | SCV000528038 | benign | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000487529 | SCV000574999 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | GABRB3: BP4, BP7, BS1 |
Athena Diagnostics Inc | RCV000438799 | SCV000613365 | benign | not specified | 2017-06-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080926 | SCV000646964 | likely benign | Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379350 | SCV002695476 | likely benign | Inborn genetic diseases | 2019-08-26 | 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. |