Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178468 | SCV000230551 | uncertain significance | not provided | 2016-07-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000653018 | SCV000774892 | benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000178468 | SCV002064180 | uncertain significance | not provided | 2022-01-20 | 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 |
New York Genome Center | RCV001255059 | SCV001431150 | uncertain significance | Seizure | 2020-01-24 | no assertion criteria provided | clinical testing |