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
423 185 724 393 88 1 8 1644

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 183 71 303 235 9 0 0 797
PTEN hamartoma tumor syndrome 185 67 291 83 16 0 0 618
not provided 114 37 222 122 48 0 6 536
not specified 9 2 81 90 30 0 1 206
Cowden syndrome 1 58 9 32 23 1 0 0 120
Ovarian Neoplasms 14 9 0 0 0 0 0 22
Macrocephaly/autism syndrome 17 2 2 0 0 0 0 21
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
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
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
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
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: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Ambry Genetics 169 70 249 118 2 0 0 607
Invitae 143 30 195 145 10 0 0 523
GeneDx 110 26 223 78 17 0 1 455
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 28 30 30 12 5 0 0 105
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
Quest Diagnostics Nichols Institute San Juan Capistrano 8 5 23 8 5 0 0 47
OMIM 44 0 1 0 0 1 0 45
Mendelics 3 7 16 12 6 0 0 44
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 6 3 13 11 5 0 0 37
Integrated Genetics/Laboratory Corporation of America 1 0 24 4 6 0 0 35
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 23 0 10 0 0 0 0 33
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 2 4 2 16 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
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 5 4 7 0 0 17
Fulgent Genetics,Fulgent Genetics 4 1 11 0 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 6 4 0 0 0 13
Database of Curated Mutations (DoCM) 6 10 0 0 0 0 1 13
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 1 5 1 0 0 0 11
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 3 2 1 1 0 0 11
Genetic Services Laboratory, University of Chicago 2 1 4 3 0 0 0 10
Center for Human Genetics, Inc 2 3 1 0 0 0 0 6
Pathway Genomics 4 1 1 0 0 0 0 6
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 5 5
Baylor Genetics 4 0 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 3 0 0 0 0 0 4
Academic Department of Medical Genetics, University of Cambridge 2 0 1 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
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
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
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
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/Clinical Genomics 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
Institute of Human Genetics,Klinikum rechts der Isar 1 0 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 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
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 0 0 1

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