Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001376093 | SCV001573107 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2018-06-20 | criteria provided, single submitter | clinical testing | The EX15dup gross duplication spans coding exon 15 in the MLH1 gene. The exact breakpoints of the duplication were not determined; however, additional RNA analysis identified this as a tandem duplication that is predicted to result in a translational frameshift with an alternate stop codon (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic. |