Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000420138 | SCV000525749 | likely benign | not specified | 2016-03-10 | 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 | RCV001088866 | SCV000652321 | benign | Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000734488 | SCV000862636 | uncertain significance | not provided | 2018-08-16 | criteria provided, single submitter | clinical testing |