Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000601496 | SCV000721550 | likely benign | not specified | 2017-07-27 | 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. |
Labcorp Genetics |
RCV001474719 | SCV001678895 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2020-09-19 | criteria provided, single submitter | clinical testing |