ClinVar Miner

Variants in gene STK11

See also:
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
192 74 883 650 101 6 1684

Condition and significance breakdown #

Total conditions: 34
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Peutz-Jeghers syndrome 125 32 637 335 47 1 1117
Hereditary cancer-predisposing syndrome 62 20 457 453 16 0 973
not provided 29 13 145 112 28 1 304
not specified 1 0 75 166 69 4 282
Malignant tumor of breast 0 0 9 22 4 0 35
Squamous cell lung carcinoma 0 4 6 1 0 0 11
none provided 0 0 3 3 5 0 11
Carcinoma of pancreas 4 0 6 0 0 0 10
Neoplasm 0 8 0 0 0 0 8
Carcinoma of pancreas; Peutz-Jeghers syndrome; Malignant tumor of testis 0 1 6 0 0 0 7
Familial ovarian cancer 0 0 2 3 1 0 6
Generalized juvenile polyposis/juvenile polyposis coli 1 1 3 0 0 0 5
Breast carcinoma 0 0 4 0 0 0 4
Carcinoma of colon 0 0 1 3 0 0 4
Cutaneous malignant melanoma 1 4 0 0 0 0 0 4
Hereditary breast and ovarian cancer syndrome 0 0 2 0 0 0 2
Lung adenocarcinoma 0 2 0 0 0 0 2
Pancreatic Neoplasms 0 2 0 0 0 0 2
Acute monocytic leukemia; Acute monoblastic leukemia 0 0 1 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 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
Embryonal rhabdomyosarcoma 0 0 1 0 0 0 1
Endometrial carcinoma 0 0 0 1 0 0 1
Hepatoblastoma 0 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Lip and oral cavity carcinoma 1 0 0 0 0 0 1
Malignant tumor of testis 1 0 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1
Melanoma 0 1 0 0 0 0 1
Non-small cell lung cancer 0 1 0 0 0 0 1
Periorbital hyperpigmentation; Intestinal polyposis 0 1 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 1
brain cancer 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 51
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 103 15 530 318 28 0 994
Ambry Genetics 58 16 324 280 7 0 685
Color Health, Inc 2 5 269 308 12 0 596
GeneDx 21 6 118 142 48 0 335
Quest Diagnostics Nichols Institute San Juan Capistrano 5 4 60 27 30 0 121
Counsyl 0 2 59 56 1 0 118
Illumina Clinical Services Laboratory,Illumina 0 0 80 10 27 0 117
Integrated Genetics/Laboratory Corporation of America 5 3 45 26 30 0 109
Department of Pathology and Laboratory Medicine,Sinai Health System 2 1 20 43 5 0 71
Mendelics 2 1 26 19 2 0 50
PreventionGenetics, PreventionGenetics 0 0 8 20 10 0 38
Database of Curated Mutations (DoCM) 0 27 0 0 0 0 27
OMIM 23 0 1 0 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 4 4 9 0 19
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 1 4 2 4 0 17
Mayo Clinic Laboratories, Mayo Clinic 0 1 8 2 5 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 5 7 0 0 14
True Health Diagnostics 0 0 2 8 0 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 7 1 1 0 9
Fulgent Genetics,Fulgent Genetics 0 1 6 0 0 0 7
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 6 0 0 7
Faculté Pluridciplinaire Nador,Université Mohamed Premier 0 0 6 1 0 0 7
Pathway Genomics 2 0 4 0 0 0 6
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
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 1 4 0 0 5
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 5 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
ITMI 0 0 0 0 0 4 4
GeneKor MSA 0 1 3 0 0 0 4
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 3 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 2 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 1
Foundation Medicine, Inc. 0 0 1 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Zhongshan School of Medicine,Sun Yat-Sen 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
National Molecular Genetics Centre of Cancer Research,N.N. Alexandrov National Cancer Centre of Belarus 1 0 0 0 0 0 1
Institutes of Biomedical Sciences,Shanxi University 1 0 0 0 0 0 1
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 1 0 0 0 1
Institute of Medical Sciences, Banaras Hindu University 1 0 0 0 0 0 1
Department of Medical Genetics,Hue University of Medicine and Pharmacy 1 0 0 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.