Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189469 | SCV000243110 | likely benign | not specified | 2017-10-18 | 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 | RCV001463485 | SCV001667429 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003457651 | SCV004184829 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | SPTAN1: BS1 |
Revvity Omics, |
RCV003457651 | SCV004237724 | uncertain significance | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing |