Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000613532 | SCV000719494 | likely benign | not specified | 2017-05-19 | 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. |
Ce |
RCV000937588 | SCV001501688 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | CACNA1A: BP4, BP7 |
Invitae | RCV001495779 | SCV001700468 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-07-19 | criteria provided, single submitter | clinical testing |