ClinVar Miner

Variants studied for PTEN hamartoma tumor syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
150 52 260 131 19 588

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PTEN 147 52 257 129 15 577
KLLN, PTEN 3 0 3 2 4 11

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 110 26 172 91 11 410
Illumina Clinical Services Laboratory,Illumina 0 0 71 32 3 106
ClinGen PTEN Variant Curation Expert Panel 19 22 14 13 6 74
Herman Laboratory,Nationwide Children's Hospital 33 0 0 0 0 33
Mendelics 0 1 14 0 0 15
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 0 0 0 4
Medical Molecular Genetics,University of Birmingham 3 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1

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.