ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer)

dbSNP: rs1564568350
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712879 SCV000843430 pathogenic not provided 2018-07-12 criteria provided, single submitter clinical testing
Human Genetics Bochum, Ruhr University Bochum RCV002463734 SCV002758629 likely pathogenic Global developmental delay 2022-02-17 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2_SUP
Myriad Genetics, Inc. RCV003453516 SCV004189686 pathogenic Cowden syndrome 1 2023-10-02 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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.