ClinVar Miner

Variants in gene MUTYH

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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
304 355 2509 1369 360 58 4058

Condition and significance breakdown #

Total conditions: 65
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 166 201 1887 920 304 0 3145
Familial adenomatous polyposis 2 231 200 1200 862 29 18 2369
not provided 63 55 327 117 48 0 550
not specified 1 0 157 173 32 21 348
Familial adenomatous polyposis 2; Gastric cancer 22 11 64 7 1 0 104
MUTYH-related disorder 11 3 24 30 0 0 68
Carcinoma of colon 19 3 15 8 4 0 47
Gastric cancer 21 2 0 2 0 0 25
Familial adenomatous polyposis 2; Pilomatrixoma; Neoplasm of stomach 4 0 8 0 0 0 12
Familial colorectal cancer type X 1 0 6 2 1 0 10
Ovarian serous cystadenocarcinoma 0 0 0 0 0 10 10
Breast carcinoma 6 1 0 0 1 0 8
Familial cancer of breast 2 1 3 1 0 0 7
Familial colorectal cancer 4 1 0 0 0 0 5
Inherited polyposis and early onset colorectal cancer - germline testing 2 0 1 0 1 0 4
Pilocytic astrocytoma 1 1 2 0 0 0 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Colon cancer 1 1 1 0 0 0 3
Colorectal cancer 3 0 0 0 0 0 3
Diffuse midline glioma, H3 K27-altered 2 0 1 0 0 0 3
Familial multiple polyposis syndrome 0 0 1 0 2 0 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Hereditary cancer 0 0 0 3 0 0 3
Lung cancer 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 2 2
Familial adenomatous polyposis 2; Neoplasm of stomach 1 1 0 0 0 0 2
Hereditary breast ovarian cancer syndrome 1 1 0 0 0 0 2
Malignant tumor of breast 0 0 1 0 1 0 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Medulloblastoma SHH activated and TP53 wild-type 1 1 0 0 0 0 2
Melanoma 0 0 0 0 0 2 2
Ovarian cancer 1 0 0 0 1 0 2
Pilomatrixoma 0 2 0 0 0 0 2
Anaplastic/large cell medulloblastoma 0 0 1 0 0 0 1
Autosomal recessive MUTYH-related disorders 0 1 0 0 0 0 1
B lymphoblastic leukemia lymphoma, no ICD-O subtype 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colonic neoplasm 0 1 0 0 0 0 1
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 1 0 0 0 0 0 1
Colorectal polyposis 1 0 0 0 0 0 1
Dysembryoplastic neuroepithelial tumor 1 0 0 0 0 0 1
Endometrial cancer 1 0 0 0 0 0 1
Endometrial carcinoma 1 0 0 0 0 0 1
Ependymoma 1 0 0 0 0 0 1
Familial adenomatous polyposis 1 0 0 1 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 1
Hereditary spastic paraplegia 7 0 1 0 0 0 0 1
Infant-type hemispheric glioma 0 1 0 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Lynch syndrome 1 0 0 1 0 0 0 1
MUTYH-related Breast Cancer 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Medulloblastoma 1 0 0 0 0 0 1
Neoplasm 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Ovarian carcinoma 1 0 0 0 0 0 1
Pleomorphic xanthoastrocytoma BRAF mutant 0 1 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Small intestine carcinoid 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 129
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 156 170 1516 735 295 0 2872
Labcorp Genetics (formerly Invitae), Labcorp 199 97 1080 834 23 0 2233
Color Diagnostics, LLC DBA Color Health 70 39 480 357 15 0 961
All of Us Research Program, National Institutes of Health 54 30 288 127 7 0 506
GeneDx 49 35 220 116 54 0 474
Baylor Genetics 46 51 178 0 0 0 274
Quest Diagnostics Nichols Institute San Juan Capistrano 30 14 164 42 7 0 257
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 34 14 111 64 6 0 229
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 16 9 62 69 8 0 164
Department of Pathology and Laboratory Medicine, Sinai Health System 33 9 78 29 6 0 150
Sema4, Sema4 14 9 70 39 6 0 138
Counsyl 13 19 67 29 1 0 129
PreventionGenetics, part of Exact Sciences 11 5 32 39 12 0 99
Mendelics 12 4 40 18 6 0 80
Fulgent Genetics, Fulgent Genetics 20 7 45 3 1 0 76
CeGaT Center for Human Genetics Tuebingen 18 8 11 24 4 0 65
Revvity Omics, Revvity 22 14 16 0 0 0 52
Illumina Laboratory Services, Illumina 6 4 30 5 4 0 49
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 4 5 17 15 8 0 49
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 1 10 14 15 0 47
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 16 6 20 0 5 0 47
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 2 28 0 0 0 36
Myriad Genetics, Inc. 16 16 0 1 0 0 33
Mayo Clinic Laboratories, Mayo Clinic 5 1 11 7 7 0 31
Breakthrough Genomics, Breakthrough Genomics 0 0 3 11 11 0 25
Clinical Genetics, Academic Medical Center 8 0 3 8 6 0 25
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 25 25
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 4 2 18 1 0 0 25
Genetic Services Laboratory, University of Chicago 6 1 8 5 2 0 22
Molecular Pathology, Peter Maccallum Cancer Centre 6 3 13 0 0 0 22
ITMI 0 0 0 0 0 21 21
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 7 0 4 7 3 0 21
KCCC/NGS Laboratory, Kuwait Cancer Control Center 6 1 1 6 6 0 20
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 2 1 12 5 0 0 20
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 2 2 9 1 5 0 19
Laboratory for Genotyping Development, RIKEN 19 0 0 0 0 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 6 0 2 3 6 0 17
GeneKor MSA 3 3 9 0 2 0 17
True Health Diagnostics 2 0 5 8 2 0 17
Eurofins Ntd Llc (ga) 4 0 5 0 7 0 16
Dasa 12 0 1 2 0 0 15
MGZ Medical Genetics Center 5 1 8 0 0 0 14
Pathway Genomics 8 1 3 1 1 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 6 0 0 3 4 0 13
Clinical Genetics Laboratory, Skane University Hospital Lund 9 1 2 0 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 12 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 3 1 0 0 0 12
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 7 0 0 2 3 0 12
GeneReviews 2 0 0 0 0 9 11
Genome Diagnostics Laboratory, Amsterdam University Medical Center 4 0 0 2 4 0 10
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 6 4 0 0 0 0 10
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 4 2 4 0 0 0 9
OMIM 9 0 0 0 0 0 9
Clinical Genetics and Genomics, Karolinska University Hospital 5 2 0 0 0 0 7
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 6 1 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 1 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 1 2 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 4 2 0 0 1 0 6
AiLife Diagnostics, AiLife Diagnostics 3 1 1 0 0 0 5
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 2 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 2 1 1 0 5
Human Genetics Bochum, Ruhr University Bochum 3 1 1 0 0 0 5
University of Washington Department of Laboratory Medicine, University of Washington 3 1 0 1 0 0 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 4 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Genomics England Pilot Project, Genomics England 4 0 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 1 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 2 0 0 0 4
Vantari Genetics 1 0 1 0 2 0 4
Variantyx, Inc. 3 1 0 0 0 0 4
Catlab - Consorci Sanitari de Terrassa 2 0 1 0 0 0 3
Center of Medical Genetics and Primary Health Care 0 0 3 0 0 0 3
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 1 0 0 1 1 0 3
Division of Medical Genetics, University of Washington 1 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 0 0 0 0 0 3
Molecular Oncology Laboratory, Hospital Clínico San Carlos 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
CSER _CC_NCGL, University of Washington 1 0 1 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 0 0 0 0 0 2
Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences 2 0 0 0 0 0 2
Department of Genomics, ADN Uruguay 2 0 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Genetics Department, Catlab 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Otogenetics 1 1 0 0 0 0 2
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 1 1 0 0 0 0 2
Arcensus 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Endocrine oncology group, Uppsala University 0 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 0 0 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 1
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 1 0 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 0 0 0 1
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 1 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 1 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
deCODE genetics, Amgen 1 0 0 0 0 0 1

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