Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000118153 | SCV000152502 | uncertain significance | not provided | 2014-01-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000545650 | SCV000656308 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765913 | SCV000897333 | uncertain significance | Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000118153 | SCV002008472 | uncertain significance | not provided | 2021-10-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ce |
RCV000118153 | SCV002586185 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | RELN: BP4 |