Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000436335 | SCV000526429 | likely benign | not specified | 2016-10-27 | 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 | RCV000474118 | SCV000561685 | likely benign | Epilepsy, progressive myoclonic, 1B | 2023-12-11 | criteria provided, single submitter | clinical testing |