ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.38dup (p.Leu14fs)

dbSNP: rs1555527002
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576812 SCV000677890 likely pathogenic Li-Fraumeni syndrome 1 2017-03-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000576812 SCV004017894 pathogenic Li-Fraumeni syndrome 1 2023-04-11 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift 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.