ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.915_*16dup (p.Leu304_Ter305=)

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 RCV004652558 SCV005140458 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-30 criteria provided, single submitter clinical testing The c.939_*16dup17 variant results from a duplication of 17 nucleotides at positions c.939 to c.*16 at the 3' end of the NTHL1 gene. This nucleotide region is generally well conserved in available vertebrate species. Based on the available evidence, the clinical significance of this variant remains unclear.

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.