ClinVar Miner

Variants in gene RET

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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 protective risk factor not provided total
129 85 2277 1753 224 1 16 30 3944

Condition and significance breakdown #

Total conditions: 62
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Multiple endocrine neoplasia, type 2 79 20 1635 1214 62 0 0 0 2967
Hereditary cancer-predisposing syndrome 58 12 1202 955 61 0 0 0 2244
not provided 55 17 345 167 81 0 0 0 631
Hirschsprung disease, susceptibility to, 1 17 16 250 33 24 0 16 0 346
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 9 5 240 64 9 0 0 0 327
Multiple endocrine neoplasia type 2A 39 13 135 93 38 0 0 0 273
not specified 2 0 71 96 51 0 0 23 208
Pheochromocytoma 7 0 78 24 73 0 0 0 173
RET-related disorder 15 11 65 81 1 0 0 0 171
Multiple endocrine neoplasia 0 0 75 27 49 0 0 0 149
Renal hypodysplasia/aplasia 1 0 0 106 35 8 0 0 0 149
Multiple endocrine neoplasia type 2B 8 3 49 33 25 0 0 0 115
Familial medullary thyroid carcinoma 19 2 17 0 1 0 0 0 38
Aganglionic megacolon 7 10 8 3 1 0 0 0 27
Hirschsprung Disease, Dominant 0 0 22 4 0 0 0 0 26
Ovarian cancer 0 4 0 0 10 0 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 0 11
MEN2 phenotype: Unclassified 8 0 0 0 0 0 0 0 8
Hereditary cancer 0 0 1 6 0 0 0 0 7
Appendicitis 0 0 6 0 0 0 0 0 6
Medullary thyroid carcinoma 1 0 4 1 0 0 0 0 6
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2A 0 0 0 0 0 0 0 5 5
Congenital anomaly of kidney and urinary tract 0 0 3 0 0 0 0 0 3
Multiple endocrine neoplasia type 2B; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 1 0 0 0 1 0 0 1 3
See cases 0 0 1 0 2 0 0 0 3
Congenital central hypoventilation 0 0 2 0 0 0 0 0 2
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE 2 0 0 0 0 0 0 0 2
Malignant tumor of breast 0 0 1 0 1 0 0 0 2
Multiple endocrine neoplasia, type 2; Aganglionic megacolon 2 0 0 0 0 0 0 0 2
Abnormal facial shape; Megacolon 0 0 1 0 0 0 0 0 1
Abnormality of the digestive system 0 1 0 0 0 0 0 0 1
Breast carcinoma; Family history of cancer 0 0 1 0 0 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 0 0 0 1 0 0 0 0 1
Colorectal cancer 1 0 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 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 0 1 0 0 0 0 0 1
Elevated basal serum calcitonin 0 0 0 1 0 0 0 0 1
Ependymoma 0 0 1 0 0 0 0 0 1
Ewing sarcoma of soft tissue 0 0 1 0 0 0 0 0 1
Familial cancer of breast 1 0 0 0 0 0 0 0 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia 1 0 0 0 0 0 0 0 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 0 0 0 0 0 0 0 1 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2 0 0 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 1 0 0 0 0 0 0 1
Hirschsprung disease, protection against 0 0 0 0 0 1 0 0 1
Hirschsprung disease, susceptibility to, 1; Familial medullary thyroid carcinoma 0 1 0 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 0 1 1
Hirschsprung disease, susceptibility to, 1; Sensorineural hearing loss disorder 1 0 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 0 1
Inborn genetic diseases 1 0 0 0 0 0 0 0 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA 1 0 0 0 0 0 0 0 1
Medullary thyroid carcinoma; Multiple endocrine neoplasia II 1 0 0 0 0 0 0 0 1
Medulloblastoma 0 0 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 0 1
Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A 0 1 0 0 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 0 1
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Multiple endocrine neoplasia type 2A 1 0 0 0 0 0 0 0 1
Pheochromocytoma; Familial medullary thyroid carcinoma 0 1 0 0 0 0 0 0 1
Pilocytic astrocytoma 0 0 1 0 0 0 0 0 1
Renal hypoplasia/aplasia 0 1 0 0 0 0 0 0 1
Thyroid carcinoma, sporadic medullary 1 0 0 0 0 0 0 0 1
Thyroid gland carcinoma 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 122
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 78 13 1543 1168 60 0 0 0 2862
Ambry Genetics 59 11 1167 943 54 0 0 0 2234
All of Us Research Program, National Institutes of Health 12 7 440 213 4 0 0 0 676
GeneDx 42 8 235 86 60 0 0 0 431
Fulgent Genetics, Fulgent Genetics 5 5 243 60 2 0 0 0 315
PreventionGenetics, part of Exact Sciences 13 9 83 117 22 0 0 0 244
Baylor Genetics 10 0 196 0 0 0 0 0 206
Illumina Laboratory Services, Illumina 0 0 107 63 51 0 0 0 149
Counsyl 7 2 84 44 6 0 0 0 143
Sema4, Sema4 6 0 44 59 12 0 0 0 121
Quest Diagnostics Nichols Institute San Juan Capistrano 16 0 82 3 11 0 0 0 112
CeGaT Center for Human Genetics Tuebingen 5 0 12 81 7 0 0 0 105
Myriad Genetics, Inc. 21 5 20 43 16 0 0 0 105
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 1 24 23 18 0 0 0 88
Color Diagnostics, LLC DBA Color Health 4 6 26 31 19 0 0 0 86
Mendelics 2 0 43 20 13 0 0 0 78
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 25 2 10 12 16 0 0 0 65
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 8 2 12 29 6 0 0 0 57
OMIM 30 0 4 0 0 1 16 0 51
Eurofins Ntd Llc (ga) 12 0 17 5 14 0 0 0 48
KCCC/NGS Laboratory, Kuwait Cancer Control Center 4 0 2 12 35 0 0 0 47
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 0 16 5 16 0 0 0 45
Breakthrough Genomics, Breakthrough Genomics 0 0 6 14 24 0 0 0 44
Genetic Services Laboratory, University of Chicago 2 1 21 13 6 0 0 0 43
Mayo Clinic Laboratories, Mayo Clinic 21 2 20 0 0 0 0 0 43
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 35 2 0 0 0 0 37
Department of Pathology and Laboratory Medicine, Sinai Health System 6 5 9 6 10 0 0 0 36
Athena Diagnostics 9 0 3 1 12 0 0 0 25
ITMI 0 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 0 19
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 8 0 0 2 8 0 0 0 18
CSER _CC_NCGL, University of Washington 1 0 12 4 0 0 0 0 17
Genetics and Molecular Pathology, SA Pathology 2 1 5 0 9 0 0 0 17
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 10 1 4 0 0 0 16
Genome Diagnostics Laboratory, University Medical Center Utrecht 8 0 0 1 5 0 0 0 14
Clinical Genetics and Genomics, Karolinska University Hospital 13 1 0 0 0 0 0 0 14
GeneKor MSA 0 1 13 0 0 0 0 0 14
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 4 0 0 10 0 0 0 14
Revvity Omics, Revvity 6 1 6 0 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 3 9 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 3 1 1 1 0 0 0 12
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 3 7 1 0 1 0 0 0 12
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 6 1 2 1 0 0 0 0 10
MGZ Medical Genetics Center 4 3 3 0 0 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 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 3 5 0 0 0 9
Clinical Genetics Laboratory, Skane University Hospital Lund 6 2 1 0 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 1 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 3 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 2 0 0 0 0 6
Klinik und Poliklinik für Kinderchirurgie, Technische Universität Dresden, Universitätsklinikum Carl Gustav Carus 0 0 6 0 0 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 0 2 0 0 0 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 2 0 0 0 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 3 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 3 0 1 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 4 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 2 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 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 1 0 0 0 0 0 4
Vantari Genetics 0 0 0 1 3 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 1 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 4 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 0 0 0 4
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 2 0 0 1 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 0 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 1 0 2 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 0 2
ISCA Site 6 0 0 0 0 2 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 1 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 1 1 0 0 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 1 0 1 0 0 0 2
3DMed Clinical Laboratory Inc 2 0 0 0 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 0 0 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 1 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 0 0 2
Division of Medical Genetics, Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 2 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 0 2
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 1 0 1 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 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 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 1 0 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 0 1
GenePathDx, GenePath diagnostics 1 0 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 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 1 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 1
CZECANCA consortium 0 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 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 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 0 1
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 1

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