ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.*10del (rs756681683)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000735266 SCV000863479 uncertain significance PTEN hamartoma tumor syndrome 2018-04-06 reviewed by expert panel curation PTEN c.*10delT (NC_000010.10:g.89725239delT) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the "PTEN ACMG Specifications Summary" document (assertion method column). PM2: Absent in large sequenced populations (PMID 27535533).
GeneDx RCV000169817 SCV000222136 benign Hereditary cancer-predisposing syndrome 2014-02-24 criteria provided, single submitter clinical testing The variant is found in PTEN panel(s).
Counsyl RCV000411453 SCV000488168 uncertain significance Cowden syndrome 1 2016-01-13 criteria provided, single submitter clinical testing
Color Health, Inc RCV000169817 SCV000686267 likely benign Hereditary cancer-predisposing syndrome 2016-11-17 criteria provided, single submitter clinical testing

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.