Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000361215 | SCV000330229 | pathogenic | not provided | 2016-02-11 | criteria provided, single submitter | clinical testing | The W66X pathogenic variant in the CTNNB1 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 either through protein truncation or nonsense-mediated mRNA decay. The W66X 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 W66X as a pathogenic variant. |
Genome |
RCV001265460 | SCV001443595 | pathogenic | Severe intellectual disability-progressive spastic diplegia syndrome | 2016-03-22 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-03-22 and interpreted as Pathogenic. Variant was initially reported on 2016-02-28 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |