Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726766 | SCV000702914 | uncertain significance | not provided | 2016-12-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000594756 | SCV000715792 | likely benign | not specified | 2017-02-03 | 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 | RCV001423722 | SCV001626304 | likely benign | Developmental and epileptic encephalopathy, 36 | 2023-12-20 | criteria provided, single submitter | clinical testing |