ClinVar Miner

Submissions for variant NC_000002.11:g.47470308_47807597del

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
Cancer Genome Medicine, Jichi Medical University RCV003148585 SCV003803081 pathogenic Lynch syndrome 1 2022-06-22 no assertion criteria provided clinical testing This large deletion variant was found in one Japanese family with Lynch syndrome, which covered; NC_000002.11:g.47470308_47807597del, hetelozygous. This deletion included following genes; EPCAM:NM_002354.2, MSH2:NM_000251.2 and KCNK12:NM_022055.2 This family has a history that proband’s mother, uncle and grand mother suffered colon-cancer and other related cancers.

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.