Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703641 | SCV000520179 | likely benign | not provided | 2018-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001423271 | SCV001625846 | likely benign | Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446673 | SCV002682656 | likely benign | Inborn genetic diseases | 2017-09-27 | 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. |
Ce |
RCV001703641 | SCV004157948 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | GABRA1: BP4, BP7 |