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
518 228 872 426 106 1 8 1932

Condition and significance breakdown #

Total conditions: 66
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
PTEN hamartoma tumor syndrome 297 94 481 190 45 0 0 1062
Hereditary cancer-predisposing syndrome 191 71 304 268 9 0 0 838
not provided 128 43 203 66 42 0 6 479
not specified 7 2 91 92 28 0 1 211
Cowden syndrome 1 62 15 41 23 1 0 0 138
Macrocephaly/autism syndrome 19 3 3 0 0 0 0 25
Neoplasm of ovary 14 9 1 0 0 0 0 23
Cowden syndrome 7 12 1 1 0 0 0 21
Inborn genetic diseases 7 4 3 0 0 0 0 14
none provided 3 0 2 2 6 0 0 13
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 7 0 0 0 0 12
Malignant tumor of breast 1 1 3 3 3 0 0 11
Breast neoplasm 4 4 0 0 0 0 0 8
Meningioma, familial 4 2 2 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
Hereditary breast and ovarian cancer syndrome 0 0 5 0 0 0 0 5
Malignant neoplasm of body of uterus 0 5 0 0 0 0 0 5
Neoplasm of uterine cervix 0 5 0 0 0 0 0 5
Squamous cell carcinoma of the head and neck 1 4 0 0 0 0 0 5
Squamous cell lung carcinoma 0 4 1 0 0 0 0 5
Uterine Carcinosarcoma 0 5 0 0 0 0 0 5
Endometrial carcinoma 4 0 0 0 0 0 0 4
Malignant melanoma of skin 0 4 0 0 0 0 0 4
Neoplasm of brain 0 4 0 0 0 0 0 4
PTEN-related disorder 2 2 0 0 0 0 0 4
Renal cell carcinoma, papillary, 1 0 4 0 0 0 0 0 4
Small cell lung carcinoma 0 4 0 0 0 0 0 4
Carcinoma of colon 0 0 0 3 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; Thyroid cancer, nonmedullary, 2; VACTERL association with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Cutaneous malignant melanoma 1 0 0 3 0 0 0 0 3
Melanoma 3 0 0 0 0 0 0 3
PTEN hamartoma tumor syndromes 2 1 0 0 0 0 0 3
Abnormality of cardiovascular system morphology 2 0 0 0 0 0 0 2
Autism spectrum disorder 0 2 0 0 0 0 0 2
Familial ovarian cancer 0 0 2 0 0 0 0 2
Hemimegalencephaly 2 0 0 0 0 0 0 2
Intellectual disability 0 1 1 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
See cases 1 0 0 0 1 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 and/or ovarian cancer 1 0 0 0 0 0 0 1
Breast cancer, susceptibility to 0 0 1 0 0 0 0 1
Glioma susceptibility 2 0 0 0 0 0 1 0 1
Global developmental delay 1 0 0 0 0 0 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
Macrocephaly/autism syndrome; VACTERL association with hydrocephalus; Cowden syndrome 1 1 0 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
Non-small cell lung cancer 1 0 0 0 0 0 0 1
Rhabdomyosarcoma (disease) 1 0 0 0 0 0 0 1
Thyroid cancer, nonmedullary, 2 1 0 0 0 0 0 0 1
Transitional cell carcinoma of the bladder 0 1 0 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: 95
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 252 55 354 181 15 0 0 857
Ambry Genetics 173 70 221 118 2 0 0 583
GeneDx 110 26 191 78 16 0 1 422
Color Health, Inc 15 3 128 163 3 0 0 312
ClinGen PTEN Variant Curation Expert Panel 38 37 40 12 7 0 0 134
Illumina Clinical Services Laboratory,Illumina 0 0 98 10 23 0 0 131
Quest Diagnostics Nichols Institute San Juan Capistrano 10 7 29 11 6 0 0 61
Integrated Genetics/Laboratory Corporation of America 4 6 36 9 5 0 0 60
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
Mendelics 3 7 16 11 6 0 0 43
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 10 2 6 4 16 0 0 38
Mayo Clinic Laboratories, Mayo Clinic 6 3 13 10 5 0 0 36
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
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 30 0 0 30
CeGaT Praxis fuer Humangenetik Tuebingen 10 6 7 5 0 0 0 28
Department of Pathology and Laboratory Medicine,Sinai Health System 3 1 7 8 3 0 0 22
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 12 9 0 0 0 0 0 21
PreventionGenetics, PreventionGenetics 1 0 4 3 7 0 0 15
Fulgent Genetics,Fulgent Genetics 4 1 10 0 0 0 0 15
Database of Curated Mutations (DoCM) 6 10 0 0 0 0 1 13
Baylor Genetics 8 1 2 0 0 0 0 11
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 3 2 1 1 0 0 11
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 1 4 1 0 0 0 10
Genetic Services Laboratory, University of Chicago 2 1 4 1 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 3 2 0 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 0 0 0 0 0 0 7
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 3 1 0 0 0 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 5 1 0 0 0 0 0 6
Pathway Genomics 4 1 1 0 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 3 0 0 0 0 0 5
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 5 5
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 5 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 0 4
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO) 0 0 4 0 0 0 0 4
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 3 1 0 0 0 0 4
King Laboratory,University of Washington 1 0 0 0 2 0 0 3
Academic Department of Medical Genetics, University of Cambridge 2 0 1 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 1 2 0 0 0 0 0 3
Medical Molecular Genetics,University of Birmingham 3 0 0 0 0 0 0 3
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 3 0 0 0 0 0 0 3
GeneKor MSA 0 1 2 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
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Institute for Genomic Medicine, Nationwide Children's Hospital 2 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 1 0 0 0 0 2
Liping Wei Laboratory,Peking University 0 2 0 0 0 0 0 2
University Health Network,Princess Margaret Cancer Centre 2 0 0 0 0 0 0 2
MAGI's Lab - Research,MAGI Group 2 0 0 0 0 0 0 2
Athena Diagnostics Inc 1 0 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 1 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 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 0 0 1 0 0 0 0 1
Institute of Human Genetics,FAU Erlangen-Nuremberg 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 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
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
CZECANCA consortium 1 0 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 0 1
Division of Medical Genetics, University of Washington 0 0 1 0 0 0 0 1
Faculté Pluridciplinaire Nador,Université Mohamed Premier 0 0 1 0 0 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 0 1

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