Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079594 | SCV000111476 | uncertain significance | not provided | 2016-04-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079594 | SCV000970228 | likely benign | not provided | 2018-06-05 | 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 | RCV001434038 | SCV001636839 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-25 | criteria provided, single submitter | clinical testing |