Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000432080 | SCV000530250 | likely benign | not specified | 2017-03-31 | 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 | RCV002059828 | SCV002433724 | likely benign | DYRK1A-related intellectual disability syndrome | 2023-02-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437195 | SCV004153649 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | DYRK1A: BP4, BP7 |