Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723583 | SCV000114641 | uncertain significance | not provided | 2013-03-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000082599 | SCV000534900 | likely benign | not specified | 2017-11-30 | 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. |
Genetic Services Laboratory, |
RCV000082599 | SCV000593422 | likely benign | not specified | 2016-05-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001366119 | SCV001562411 | likely benign | Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related | 2023-10-22 | criteria provided, single submitter | clinical testing |