Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000425756 | SCV000524891 | benign | not specified | 2016-04-05 | 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 | RCV001083833 | SCV000563088 | benign | Developmental and epileptic encephalopathy 94 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000476321 | SCV001143541 | benign | not provided | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000476321 | SCV003917428 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | CHD2: BP4, BS1 |