Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000441772 | SCV000510909 | likely benign | not provided | 2016-09-13 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000479509 | SCV000569692 | benign | not specified | 2016-04-12 | 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 | RCV002058876 | SCV002407565 | benign | DYRK1A-related intellectual disability syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing |