Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608991 | SCV000719911 | likely benign | not specified | 2017-12-27 | 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 | RCV002063313 | SCV002382383 | benign | Developmental and epileptic encephalopathy, 36 | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002063313 | SCV002524920 | benign | Developmental and epileptic encephalopathy, 36 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002063313 | SCV002807712 | likely benign | Developmental and epileptic encephalopathy, 36 | 2021-11-02 | criteria provided, single submitter | clinical testing |