ClinVar Miner

Submissions for variant NM_000249.3:c.(1667+1_1668-1)_(1731+1_1732-1)dup

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.