Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000609161 | SCV000717690 | likely benign | not specified | 2017-03-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001483233 | SCV001687618 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003431139 | SCV004156431 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | SPTAN1: BP4, BP7 |