ClinVar Miner

Variants in gene RET

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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 protective not provided total
151 94 2445 1933 426 1 46 4289

Condition and significance breakdown #

Total conditions: 81
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Multiple endocrine neoplasia, type 2 80 24 1750 1319 69 0 0 3159
Hereditary cancer-predisposing syndrome 60 15 1394 1091 70 0 0 2582
not provided 61 20 416 191 86 0 0 730
Multiple endocrine neoplasia type 2A 41 14 143 164 245 0 0 555
Hirschsprung disease, susceptibility to, 1 34 17 251 33 24 0 0 348
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 10 5 240 64 9 0 0 328
not specified 2 0 88 105 59 0 23 238
RET-related disorder 15 11 65 81 1 0 0 171
Pheochromocytoma 7 0 56 20 73 0 0 148
Multiple endocrine neoplasia 0 0 53 23 49 0 0 123
Renal hypodysplasia/aplasia 1 0 0 84 31 8 0 0 123
Multiple endocrine neoplasia type 2B 9 3 49 33 25 0 0 116
Familial medullary thyroid carcinoma 19 2 17 0 1 0 0 38
Aganglionic megacolon 7 11 8 3 1 0 0 28
Ovarian cancer 0 4 0 0 10 0 0 14
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 1 1 9 0 0 0 0 11
Hereditary cancer 0 0 2 6 0 0 0 8
MEN2 phenotype: Unclassified 8 0 0 0 0 0 0 8
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia 0 0 5 2 0 0 0 7
Appendicitis 0 0 6 0 0 0 0 6
Medullary thyroid carcinoma 1 0 4 1 0 0 0 6
Familial cancer of breast 1 0 0 0 0 0 4 5
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2A 0 0 0 0 0 0 5 5
Neoplasm 0 1 4 0 0 0 0 5
See cases 1 0 2 0 2 0 0 5
Melanoma 0 0 0 0 0 0 4 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 4 4
Congenital anomaly of kidney and urinary tract 0 0 3 0 0 0 0 3
Inherited phaeochromocytoma and paraganglioma excluding NF1 2 0 1 0 0 0 0 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 0 2 2
Congenital central hypoventilation 0 0 2 0 0 0 0 2
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 1 0 0 0 0 0 1 2
Hepatocellular carcinoma 0 1 0 0 0 0 1 2
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE 2 0 0 0 0 0 0 2
Malignant tumor of breast 0 0 1 0 1 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 0 2 2
Multiple endocrine neoplasia type 2B; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 0 0 0 0 1 0 1 2
Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A 1 1 0 0 0 0 0 2
Multiple endocrine neoplasia, type 2; Aganglionic megacolon 2 0 0 0 0 0 0 2
Sarcoma 0 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 2 2
Abnormal facial shape; Megacolon 0 0 1 0 0 0 0 1
Abnormality of the digestive system 0 1 0 0 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 0 1 1
Breast carcinoma; Family history of cancer 0 0 1 0 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 0 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 0 1 1
Colorectal cancer 1 0 0 0 0 0 0 1
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Renal hypodysplasia/aplasia 1; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 1 0 0 0 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 0 1 0 0 0 0 1
Elevated basal serum calcitonin 0 0 0 1 0 0 0 1
Ependymoma 0 0 1 0 0 0 0 1
Ewing sarcoma of soft tissue 0 0 1 0 0 0 0 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia 1 0 0 0 0 0 0 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2 0 0 0 0 0 0 1 1
Hirschsprung disease, protection against 0 0 0 0 0 1 0 1
Hirschsprung disease, susceptibility to, 1; Familial medullary thyroid carcinoma 0 1 0 0 0 0 0 1
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A 0 0 0 0 0 0 1 1
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia, type 2 0 0 0 0 0 0 1 1
Hirschsprung disease, susceptibility to, 1; Sensorineural hearing loss disorder 1 0 0 0 0 0 0 1
Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival overgrowth; Joint hypermobility; Thick vermilion border 1 0 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 0 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA 1 0 0 0 0 0 0 1
Medullary thyroid carcinoma; Multiple endocrine neoplasia II 1 0 0 0 0 0 0 1
Medulloblastoma 0 0 1 0 0 0 0 1
Medulloblastoma non-WNT/non-SHH 0 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 0 1 0 0 0 0 0 1
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Multiple endocrine neoplasia type 2A 1 0 0 0 0 0 0 1
Neoplasm of the endocrine system 0 0 0 1 0 0 0 1
Pheochromocytoma; Familial medullary thyroid carcinoma 0 1 0 0 0 0 0 1
Pilocytic astrocytoma 0 0 1 0 0 0 0 1
Prostate neoplasm 0 0 0 1 0 0 0 1
Renal hypoplasia/aplasia 0 1 0 0 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 1 1
Thyroid carcinoma, sporadic medullary 1 0 0 0 0 0 0 1
Thyroid gland carcinoma 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 137
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Labcorp Genetics (formerly Invitae), Labcorp 79 17 1624 1241 62 0 0 3023
Ambry Genetics 61 14 1356 1078 56 0 0 2565
All of Us Research Program, National Institutes of Health 12 7 440 213 4 0 0 676
Color Diagnostics, LLC DBA Color Health 6 7 285 246 30 0 0 574
GeneDx 43 9 277 86 60 0 0 475
Myriad Genetics, Inc. 24 6 20 114 226 0 0 390
Fulgent Genetics, Fulgent Genetics 5 5 243 60 2 0 0 315
PreventionGenetics, part of Exact Sciences 13 9 83 117 22 0 0 244
Baylor Genetics 10 0 196 0 0 0 0 206
Quest Diagnostics Nichols Institute San Juan Capistrano 20 1 129 11 17 0 0 178
Counsyl 7 2 84 44 6 0 0 143
CeGaT Center for Human Genetics Tuebingen 6 1 13 103 12 0 0 135
Illumina Laboratory Services, Illumina 0 0 85 59 51 0 0 123
Sema4, Sema4 6 0 44 59 12 0 0 121
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 1 38 32 23 0 0 118
Mendelics 2 0 43 21 13 0 0 79
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 26 3 15 17 17 0 0 78
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 9 3 23 31 6 0 0 72
Mayo Clinic Laboratories, Mayo Clinic 23 2 26 8 7 0 0 66
OMIM 46 0 4 0 0 1 0 51
Eurofins Ntd Llc (ga) 12 0 17 5 14 0 0 48
KCCC/NGS Laboratory, Kuwait Cancer Control Center 4 0 3 12 35 0 0 48
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 44 2 0 0 0 47
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 0 16 5 16 0 0 45
Breakthrough Genomics, Breakthrough Genomics 0 0 6 14 24 0 0 44
Genetic Services Laboratory, University of Chicago 2 1 22 13 6 0 0 44
Department of Pathology and Laboratory Medicine, Sinai Health System 6 5 9 6 10 0 0 36
GeneKor MSA 0 1 13 0 12 0 0 26
Athena Diagnostics 9 0 3 1 12 0 0 25
ITMI 0 0 0 0 0 0 23 23
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 16 1 0 0 0 19
Revvity Omics, Revvity 6 1 12 0 0 0 0 19
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 8 0 0 2 8 0 0 18
CSER _CC_NCGL, University of Washington 1 0 12 4 0 0 0 17
Genetics and Molecular Pathology, SA Pathology 2 1 5 0 9 0 0 17
Molecular Pathology, Peter Maccallum Cancer Centre 11 0 4 2 0 0 0 17
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 10 1 4 0 0 16
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 16 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 3 1 3 1 0 0 15
Clinical Genetics and Genomics, Karolinska University Hospital 13 1 0 0 0 0 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 8 0 0 1 5 0 0 14
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 4 0 0 10 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 3 9 0 0 13
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 3 7 1 0 1 0 0 12
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 7 3 0 0 0 11
Clinical Genetics Laboratory, Skane University Hospital Lund 7 3 1 0 0 0 0 11
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 6 1 2 1 0 0 0 10
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 7 1 2 0 0 0 0 10
MGZ Medical Genetics Center 4 3 3 0 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 3 5 0 0 9
Dasa 7 0 1 0 1 0 0 9
Laboratory of Genetics, Children's Clinical University Hospital Latvia 3 0 1 3 1 0 0 8
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 5 1 1 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 1 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 3 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 2 0 0 0 6
Klinik und Poliklinik für Kinderchirurgie, Technische Universität Dresden, Universitätsklinikum Carl Gustav Carus 0 0 6 0 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 0 2 0 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 3 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 3 0 1 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 4 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 2 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 2 0 0 0 0 5
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 2 0 1 1 1 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 3 0 0 4
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 0 0 4 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 1 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 0 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 0 0 4
Vantari Genetics 0 0 0 1 3 0 0 4
3billion 1 1 1 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 1 0 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 2 1 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 0 3
NHS Central & South Genomic Laboratory Hub 2 0 1 0 0 0 0 3
3DMed Clinical Laboratory Inc 2 0 0 0 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 1 0 1 0 0 2
Centre of Medical Genetics, University Hospital Muenster 1 0 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 1 1 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 0 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 1 0 0 0 0 2
Division of Medical Genetics, Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi 0 2 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 1 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 0 2
ISCA Site 6 0 0 0 0 2 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 1 0 0 2
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 1 0 1 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 1 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 0 2
CIViC Knowledgebase, Washington University School of Medicine 1 0 0 0 0 0 0 1
CZECANCA consortium 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 0 1

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