Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173237 | SCV000224333 | uncertain significance | not provided | 2014-11-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000173237 | SCV000973178 | likely benign | not provided | 2018-06-20 | 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 | RCV002054045 | SCV002346398 | likely benign | Developmental and epileptic encephalopathy, 9 | 2023-08-18 | criteria provided, single submitter | clinical testing |