Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692376 | SCV000820196 | likely benign | Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 | 2022-08-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763952 | SCV000894899 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001545866 | SCV001765278 | uncertain significance | not provided | 2023-07-20 | criteria provided, single submitter | clinical testing | Reported previously as part of a complex allele with multiple variants in the 5' regulatory region of the GARBR3 gene in a child with autism; the patient's father who had autistic features and in his unaffected sibling also harbored the complex allele and this T186M variant (Chen et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24999380) |