ClinVar Miner

Variants in gene STK11

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
345 144 1353 1193 585 35 2803

Condition and significance breakdown #

Total conditions: 53
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Peutz-Jeghers syndrome 261 69 969 892 509 6 2138
Hereditary cancer-predisposing syndrome 132 50 774 729 65 0 1622
not provided 41 21 249 151 85 5 498
not specified 1 0 112 234 80 1 372
Melanoma, cutaneous malignant, susceptibility to, 1 6 2 80 0 0 0 88
STK11-related disorder 0 2 16 47 2 0 67
Breast and/or ovarian cancer 0 0 22 22 3 0 47
Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Familial pancreatic carcinoma; Germ cell tumor of testis 6 5 23 9 1 0 44
Malignant tumor of breast 0 0 8 20 3 0 31
Familial ovarian cancer 2 2 3 9 1 0 17
Carcinoma of pancreas 4 0 6 0 0 0 10
Lung cancer 0 0 0 0 0 10 10
Neoplasm 2 8 0 0 0 0 10
Carcinoma of pancreas; Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Germ cell tumor of testis 0 0 3 6 0 0 9
Hereditary breast ovarian cancer syndrome 0 1 5 3 0 0 9
Peutz-Jeghers syndrome; Familial pancreatic carcinoma 0 0 5 2 0 0 7
Squamous cell lung carcinoma 0 0 6 1 0 0 7
Carcinoma of pancreas; Peutz-Jeghers syndrome; Malignant tumor of testis 0 1 5 0 0 0 6
Gastric cancer 1 0 0 0 0 5 6
Melanoma 0 4 0 0 0 1 5
Breast carcinoma 0 0 4 0 0 0 4
Carcinoma of colon 0 0 1 2 0 0 3
Generalized juvenile polyposis/juvenile polyposis coli 0 1 2 0 0 0 3
Ovarian cancer 0 0 0 0 3 0 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Hereditary cancer 0 0 0 2 0 0 2
See cases 0 0 2 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Adrenal cortex carcinoma 0 1 0 0 0 0 1
Arthrogryposis, distal, with impaired proprioception and touch 0 0 1 0 0 0 1
Bile duct cancer 0 0 0 1 0 0 1
Breast cancer, susceptibility to 0 0 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 1 0 0 0 0 1
Childhood neoplasm 0 0 1 0 0 0 1
Embryonal rhabdomyosarcoma 0 0 1 0 0 0 1
Endometrial carcinoma 0 0 0 1 0 0 1
Familial adenomatous polyposis 1 0 1 0 0 0 0 1
Germ cell tumor of testis 1 0 0 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 1
Malignant neoplasm of brain 0 0 0 1 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Malignant tumor of testis 1 0 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1
Multiple endocrine neoplasia, type 1 0 0 1 0 0 0 1
Ovarian sex cord-stromal tumor 1 0 0 0 0 0 1
Periorbital hyperpigmentation; Intestinal polyposis 0 1 0 0 0 0 1
Pigmentary skin disorders 0 0 1 0 0 0 1
Squamous cell carcinoma 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 113
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 207 27 704 809 74 0 1821
Ambry Genetics 128 45 617 559 25 0 1374
Color Diagnostics, LLC DBA Color Health 3 4 304 392 16 0 719
Myriad Genetics, Inc. 33 12 40 140 437 0 662
GeneDx 29 9 185 149 106 0 478
Genome-Nilou Lab 30 13 311 95 8 0 457
All of Us Research Program, National Institutes of Health 1 0 191 175 2 0 369
Quest Diagnostics Nichols Institute San Juan Capistrano 6 8 109 37 37 0 197
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 6 60 63 37 0 175
Department of Pathology and Laboratory Medicine, Sinai Health System 9 7 63 82 5 0 166
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 3 9 36 97 6 0 151
Sema4, Sema4 1 0 42 50 31 0 124
Counsyl 0 2 54 52 0 0 108
PreventionGenetics, part of Exact Sciences 0 2 19 67 11 0 99
Illumina Laboratory Services, Illumina 0 0 66 7 25 0 98
Baylor Genetics 1 2 83 0 0 0 86
CeGaT Center for Human Genetics Tuebingen 2 2 12 51 3 0 70
Mendelics 3 1 19 21 6 0 50
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 22 22 3 0 47
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 7 26 4 0 37
Breakthrough Genomics, Breakthrough Genomics 0 0 0 9 25 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 6 12 10 0 31
Mayo Clinic Laboratories, Mayo Clinic 2 1 14 7 5 0 29
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 26 26
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 5 21 0 26
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 20 4 0 0 0 0 24
Fulgent Genetics, Fulgent Genetics 0 2 16 6 0 0 24
OMIM 23 0 0 0 0 0 23
Molecular Pathology, Peter Maccallum Cancer Centre 2 0 14 2 0 0 18
Genetic Services Laboratory, University of Chicago 0 0 9 7 1 0 17
Eurofins Ntd Llc (ga) 5 1 3 2 3 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 6 6 0 14
MGZ Medical Genetics Center 2 1 11 0 0 0 14
Clinical Genetics, Academic Medical Center 0 0 0 10 3 0 13
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 10 3 0 13
GeneKor MSA 0 1 3 0 7 0 11
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 11 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 6 1 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 5 2 1 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 7 1 0 0 8
True Health Diagnostics 0 0 1 7 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 0 2 2 0 7
Faculté Pluridciplinaire Nador, Université Mohamed Premier 0 0 6 1 0 0 7
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 4 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 4 0 0 0 6
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 6
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 3 3 0 0 6
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 5 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 0 0 2 3 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 2 0 5
Pathway Genomics 2 0 3 0 0 0 5
Revvity Omics, Revvity 0 0 5 0 0 0 5
3billion 2 0 2 0 0 0 4
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 1 3 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 1 0 0 0 4
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 2 0 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 4 0 0 0 4
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University 0 4 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
CSER _CC_NCGL, University of Washington 0 0 3 0 0 0 3
Dasa 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 1 0 0 3
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 3 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 1 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 3 0 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 0 2 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 1 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
Arcensus 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
Cancer Molecular Diagnostics Core, Tianjin Medical University Cancer Institute and Hospital 0 0 1 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Dr. Arun Seshachalam & Co, Dr. GVN Cancer Institute 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 1 0 0 0 1
ITMI 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 1 0 0 1
Institutes of Biomedical Sciences, Shanxi University 1 0 0 0 0 0 1
Laboratory for Genotyping Development, RIKEN 1 0 0 0 0 0 1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 0 1 0 0 0 1
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, Barretos Cancer Hospital 0 1 0 0 0 0 1
National Molecular Genetics Centre of Cancer Research, N.N. Alexandrov National Cancer Centre of Belarus 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Zhongshan School of Medicine, Sun Yat-Sen University 1 0 0 0 0 0 1

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