Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000375101 | SCV000338197 | uncertain significance | not provided | 2018-01-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000692251 | SCV000820065 | benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001420612 | SCV001622935 | uncertain significance | Familial temporal lobe epilepsy 7 | 2020-06-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000375101 | SCV002007861 | uncertain significance | not provided | 2019-07-31 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |