Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214082 | SCV001385745 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-07-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759476 | SCV001996119 | uncertain significance | not provided | 2019-09-26 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Clinical Molecular Genetics Laboratory, |
RCV000781966 | SCV000920420 | uncertain significance | Seizure | 2017-09-01 | no assertion criteria provided | clinical testing |