Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481279 | SCV000570013 | likely pathogenic | not provided | 2016-04-15 | criteria provided, single submitter | clinical testing | The C551X variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The C551X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret C551X as a likely pathogenic variant |
Genome |
RCV001265302 | SCV001443419 | pathogenic | Complex neurodevelopmental disorder | 2018-08-13 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-08-13 and interpreted as Pathogenic. Variant was initially reported on 2016-05-06 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |