ClinVar Miner

Variants studied for PTEN hamartoma tumor syndrome

Included ClinVar conditions (21):
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 not provided total
359 112 852 291 87 1 1626

Gene and significance breakdown #

Total genes and gene combinations: 14
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTEN 286 101 437 138 42 0 936
SDHD 37 8 165 28 4 0 241
PIK3CA 15 2 112 46 13 0 188
AKT1 4 0 100 60 12 0 172
SEC23B 7 1 11 10 12 0 40
KLLN, PTEN 4 0 14 8 4 0 28
SDHB 1 0 10 1 0 1 13
KLLN 1 0 1 0 0 0 2
RINT1 0 0 2 0 0 0 2
ACTA2, ANKRD22, KLLN, LIPF, LIPJ, LIPK, LIPM, LIPN, PTEN, RNLS, STAMBPL1 1 0 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
ALG9, BTG4, C11orf1, C11orf52, COLCA2, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, LOC728196, MIR34B, MIR34C, NKAPD1, PIH1D2, POU2AF1, PPP2R1B, SDHD, SIK2, TIMM8B 1 0 0 0 0 0 1
ATAD1, KLLN, LIPF, LIPJ, LIPK, LIPN, MINPP1, PAPSS2, PTEN, RNLS 1 0 0 0 0 0 1
EGFR 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 267 48 680 236 52 0 1283
ClinGen PTEN Variant Curation Expert Panel 38 37 41 19 9 0 144
Illumina Clinical Services Laboratory,Illumina 0 0 97 11 23 0 131
Mendelics 5 8 35 21 10 0 79
Counsyl 3 3 24 23 1 0 54
OMIM 40 0 5 0 0 0 45
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 24 0 10 0 0 0 34
Herman Laboratory,Nationwide Children's Hospital 33 0 0 0 0 0 33
Fulgent Genetics,Fulgent Genetics 5 1 16 0 0 0 22
Integrated Genetics/Laboratory Corporation of America 3 5 0 0 0 0 8
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 3 0 0 0 0 7
University of Washington Department of Laboratory Medicine, University of Washington 3 3 0 1 0 0 7
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 3 1 0 0 0 6
Pathway Genomics 4 1 1 0 0 0 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 1 1 1 0 0 4
Baylor Genetics 3 0 0 0 0 0 3
Medical Molecular Genetics,University of Birmingham 3 0 0 0 0 0 3
Genetic Services Laboratory,University of Chicago 1 1 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 0 2 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 1 0 0 0 0 2
University Health Network,Princess Margaret Cancer Centre 2 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 0 0 0 0 1
King Laboratory,University of Washington 1 0 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 1 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 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.