Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000610567 | SCV000720850 | likely benign | not specified | 2017-07-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001522834 | SCV001732449 | benign | Developmental and epileptic encephalopathy, 36 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV000610567 | SCV001984091 | benign | not specified | 2020-12-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001522834 | SCV002524923 | benign | Developmental and epileptic encephalopathy, 36 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001522834 | SCV002803370 | likely benign | Developmental and epileptic encephalopathy, 36 | 2021-10-21 | criteria provided, single submitter | clinical testing |