Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001376096 | SCV001573110 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2019-02-14 | criteria provided, single submitter | clinical testing | The EX2_6dup gross duplication spans coding exons 2 through 6 in the CHEK2 gene; however, the exact breakpoints of the duplication were not determined. Additional analysis identified this duplication in tandem in at least one proband and is predicted to result in a premature truncation causing a translational frameshift with a predicted alternate stop codon (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic. |