ClinVar Miner

Variants in gene PTEN

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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 risk factor not provided total
381 156 640 332 75 1 6 1444

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 151 53 214 214 9 0 0 636
PTEN hamartoma tumor syndrome 147 52 257 129 15 0 0 577
not provided 111 34 218 7 38 0 4 405
not specified 6 2 83 90 27 0 1 200
Cowden syndrome 1 57 8 32 23 1 0 0 118
Ovarian Neoplasms 14 9 0 0 0 0 0 22
Macrocephaly/autism syndrome 16 1 2 0 0 0 0 19
Macrocephaly/autism syndrome; Meningioma, familial; Malignant tumor of prostate; VACTERL association with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1 4 1 8 0 0 0 0 13
Cowden syndrome 5 4 0 1 0 0 0 10
Inborn genetic diseases 5 3 2 0 0 0 0 10
Neoplasm of the breast 4 4 0 0 0 0 0 8
Neoplasm of the large intestine 3 5 0 0 0 0 0 8
Glioblastoma 0 5 0 0 0 0 1 6
Adenocarcinoma of prostate 0 5 0 0 0 0 0 5
Adenocarcinoma of stomach 0 5 0 0 0 0 0 5
Malignant neoplasm of body of uterus 0 5 0 0 0 0 0 5
Squamous cell carcinoma of the head and neck 1 4 0 0 0 0 0 5
Uterine Carcinosarcoma 0 5 0 0 0 0 0 5
Uterine cervical neoplasms 0 5 0 0 0 0 0 5
Malignant melanoma of skin 0 4 0 0 0 0 0 4
Neoplasm of brain 0 4 0 0 0 0 0 4
Renal cell carcinoma, papillary, 1 0 4 0 0 0 0 0 4
Small cell lung cancer 0 4 0 0 0 0 0 4
Squamous cell lung carcinoma 0 4 0 0 0 0 0 4
Cutaneous melanoma 3 0 0 0 0 0 0 3
Endometrial carcinoma 3 0 0 0 0 0 0 3
Endometrial carcinoma; Macrocephaly/autism syndrome; Meningioma, familial; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Follicular thyroid carcinoma; VACTERL association with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Cutaneous malignant melanoma 1 0 0 3 0 0 0 0 3
History of neurodevelopmental disorder 0 0 3 0 0 0 0 3
PTEN-related disorder 1 2 0 0 0 0 0 3
Autism spectrum disorder 0 2 0 0 0 0 0 2
Lhermitte-Duclos disease 2 0 0 0 0 0 0 2
Macrocephaly/autism syndrome; Cowden syndrome 1 1 1 0 0 0 0 0 2
Neoplasm 0 2 0 0 0 0 0 2
Prostate cancer, somatic 2 0 0 0 0 0 0 2
Proteus-like syndrome 2 0 0 0 0 0 0 2
Acute megakaryoblastic leukemia; Mediastinal germ cell tumor 1 0 0 0 0 0 0 1
Autistic disorder of childhood onset; Global developmental delay; Seizures; Cognitive impairment; Cortical visual impairment; Microcephaly; Developmental regression; Infantile spasms 1 0 0 0 0 0 0 1
Bannayan-Riley-Ruvalcaba syndrome 0 0 1 0 0 0 0 1
Breast cancer, susceptibility to 0 0 1 0 0 0 0 1
Follicular thyroid carcinoma 1 0 0 0 0 0 0 1
Glioma susceptibility 2 0 0 0 0 0 1 0 1
Hemangioma 1 0 0 0 0 0 0 1
Hereditary cancer 1 0 0 0 0 0 0 1
Macrocephalus 1 0 0 0 0 0 0 1
Macrocephalus; Large for gestational age; Loss of consciousness 0 1 0 0 0 0 0 1
Macrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1 0 1 0 0 0 0 0 1
Malignant tumor of floor of mouth 0 1 0 0 0 0 0 1
Meningioma 1 0 0 0 0 0 0 1
Neoplasm of ovary 0 0 1 0 0 0 0 1
Non-small cell lung cancer 1 0 0 0 0 0 0 1
See cases 0 0 0 0 1 0 0 1
Seizures 0 0 1 0 0 0 0 1
Transitional cell carcinoma of the bladder 0 1 0 0 0 0 0 1
Tumor susceptibility linked to germline BAP1 mutations 0 0 1 0 0 0 0 1
Vater association with macrocephaly and ventriculomegaly 0 0 1 0 0 0 0 1
developmental delay with seizures 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 109 25 224 73 13 0 1 445
Ambry Genetics 138 53 161 86 2 0 0 440
Invitae 108 26 170 90 9 0 0 403
Color 7 1 80 118 3 0 0 209
Illumina Clinical Services Laboratory,Illumina 0 0 71 32 3 0 0 106
ClinGen PTEN Variant Curation Expert Panel 19 22 13 11 4 0 0 69
University of Washington Department of Laboratory Medicine,University of Washington 3 3 0 50 0 0 0 56
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 1 32 2 6 0 0 50
Counsyl 3 3 20 22 1 0 0 49
OMIM 44 0 1 0 0 1 0 45
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 6 3 13 11 5 0 0 37
Quest Diagnostics Nichols Institute San Juan Capistrano 5 5 18 8 3 0 0 37
Integrated Genetics/Laboratory Corporation of America 1 0 27 2 5 0 0 35
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 23 0 10 0 0 0 0 33
Herman Laboratory,Nationwide Children's Hospital 32 0 0 0 0 0 0 32
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 30 0 0 30
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 7 2 3 1 10 0 0 23
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 12 9 0 0 0 0 0 21
PreventionGenetics 1 0 5 4 7 0 0 17
Fulgent Genetics 4 1 11 0 0 0 0 16
Mendelics 0 1 14 0 0 0 0 15
Database of Curated Mutations (DoCM) 6 10 0 0 0 0 1 13
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 0 5 1 0 0 0 10
Genetic Services Laboratory, University of Chicago 2 1 4 3 0 0 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 2 1 1 0 0 8
Center for Human Genetics, Inc 2 3 1 0 0 0 0 6
Pathway Genomics 4 1 1 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 1 0 0 0 5
Baylor Miraca Genetics Laboratories, 3 0 0 0 0 0 0 3
Medical Molecular Genetics,University of Birmingham 3 0 0 0 0 0 0 3
GeneKor MSA 0 1 2 0 0 0 0 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 3 0 0 0 0 0 3
Western Connecticut Health Network,Rudy L. Ruggles Biomedical Research Institute 2 0 1 0 0 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 3 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 2 0 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 0 0 0 0 0 2
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 2 0 0 0 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 2 0 0 0 0 0 0 2
True Health Diagnostics 0 0 1 1 0 0 0 2
Liping Wei Laboratory,Peking University 0 2 0 0 0 0 0 2
Athena Diagnostics Inc 1 0 0 0 0 0 0 1
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 1 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 1 0 0 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
ITMI 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
ISCA site 6 0 0 0 0 1 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 0 0 0 0 1
Institute of Human Genetics,FAU Erlangen-Nuremberg 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 1 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 1 0 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 0 1
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital 0 0 1 0 0 0 0 1

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