Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001376088 | SCV001573102 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2020-03-02 | criteria provided, single submitter | clinical testing | The EX15dup gross duplication spans coding exon 15 in the BRCA1 gene; however, the exact breakpoints of the duplication were not determined. This alteration has been identified as a tandem duplication in at least one case and is predicted to lead to a frameshift with premature termination codon (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic. |