Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000430727 | SCV000519361 | likely benign | not specified | 2016-03-01 | 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 | RCV002064957 | SCV002453606 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002480295 | SCV002798388 | likely benign | Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 | 2021-08-06 | criteria provided, single submitter | clinical testing |