Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538683 | SCV000652275 | likely benign | Neonatal-onset encephalopathy with rigidity and seizures | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001547455 | SCV001767164 | uncertain significance | not provided | 2022-02-21 | criteria provided, single submitter | clinical testing | Reported previously in an individual with Dravet syndrome; however, a second BRAT1 variant was not identified, and the patient was found to have a variant in the SCN1A gene (Kim et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29295803) |