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
138 50 1062 566 110 1 15 24 1692

Condition and significance breakdown #

Total conditions: 52
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Multiple endocrine neoplasia, type 2 83 9 799 346 44 0 0 0 1272
Hereditary cancer-predisposing syndrome 26 2 299 207 17 0 0 0 546
not provided 34 5 88 134 26 0 0 0 278
Multiple endocrine neoplasia, type 2a 47 19 119 52 16 0 0 0 230
not specified 8 0 95 49 32 0 0 23 179
Pheochromocytoma 8 0 77 24 47 0 0 0 155
Multiple endocrine neoplasia 0 0 76 27 49 0 0 0 149
Renal hypodysplasia/aplasia 1 0 0 106 35 8 0 0 0 149
Hirschsprung disease 1 3 4 71 32 23 0 15 0 146
Multiple endocrine neoplasia, type 2b 12 16 47 26 5 0 0 0 101
Familial medullary thyroid carcinoma 17 1 9 0 1 0 0 0 28
Hirschsprung Disease, Dominant 0 0 22 4 0 0 0 0 26
Hirschsprung disease 6 10 8 3 1 0 0 0 26
Medullary thyroid carcinoma 2 18 4 1 0 0 0 0 24
none provided 7 1 2 3 11 0 0 0 24
Congenital central hypoventilation; Hirschsprung disease 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 1 1 15 0 0 0 0 0 17
Multiple endocrine neoplasia, type 1 0 14 0 0 0 0 0 0 14
Multiple endocrine neoplasia, type 4 0 14 0 0 0 0 0 0 14
Appendicitis 0 0 3 0 0 0 0 0 3
Congenital anomalies of kidney and urinary tract 0 0 2 0 0 0 0 0 2
Congenital central hypoventilation 1 0 1 0 0 0 0 0 2
Congenital central hypoventilation; Hirschsprung disease 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Renal hypodysplasia/aplasia 1; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 1 0 1 0 0 0 0 0 2
Inborn genetic diseases 2 0 0 0 0 0 0 0 2
MEN2 phenotype: Unclassified 2 0 0 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; Hirschsprung disease 2 0 0 0 0 0 0 0 2
Neoplasm 0 2 0 0 0 0 0 0 2
Neoplasm of the thyroid gland 1 1 0 0 0 0 0 0 2
See cases 0 0 0 0 2 0 0 0 2
Abnormal facial shape; Aganglionic megacolon 0 0 1 0 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy 0 0 1 0 0 0 0 0 1
Central hypoventilation syndrome, congenital, with hirschsprung disease 1 0 0 0 0 0 0 0 1
Colorectal cancer 1 0 0 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
Hirschsprung disease 1; Sensorineural hearing loss 1 0 0 0 0 0 0 0 1
Hirschsprung disease, protection against 0 0 0 0 0 1 0 0 1
Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival enlargement; Joint hypermobility; Thick vermilion border 1 0 0 0 0 0 0 0 1
MEN2 phenotype: Unknown 0 0 1 0 0 0 0 0 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA 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
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 1 0 0 0 0 0 0 0 1
Thyroid carcinoma, sporadic medullary 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Invitae 44 9 798 391 45 0 0 0 1287
Ambry Genetics 28 1 290 205 16 0 0 0 540
Research and Development, ARUP Laboratories 103 0 77 0 7 0 0 0 186
Illumina Clinical Services Laboratory,Illumina 0 0 107 63 51 0 0 0 149
Counsyl 7 2 84 44 6 0 0 0 143
GeneDx 29 3 22 54 18 0 0 0 126
PreventionGenetics, PreventionGenetics 1 0 28 37 22 0 0 0 88
Mendelics 2 0 48 10 10 0 0 0 70
OMIM 33 0 2 0 0 1 15 0 51
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 24 2 6 6 13 0 0 0 51
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 12 0 17 5 14 0 0 0 48
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 6 0 15 5 15 0 0 0 41
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 13 15 0 0 0 0 30
ITMI 0 0 0 0 0 0 0 23 23
Integrated Genetics/Laboratory Corporation of America 6 1 4 3 8 0 0 0 22
Athena Diagnostics Inc 6 0 2 1 11 0 0 0 20
Fulgent Genetics,Fulgent Genetics 2 1 15 0 0 0 0 0 18
Database of Curated Mutations (DoCM) 1 18 0 0 0 0 0 0 18
CSER _CC_NCGL, University of Washington 1 0 12 4 0 0 0 0 17
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 10 1 4 0 0 0 16
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 13 1 0 0 0 0 0 0 14
GeneKor MSA 0 1 13 0 0 0 0 0 14
Baylor Genetics 1 0 11 0 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 3 0 0 0 0 0 6
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 2 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
Vantari Genetics 0 0 0 1 3 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 0 0 3
Klinik und Poliklinik für Kinderchirurgie,Technische Universität Dresden, Universitätsklinikum Carl Gustav Carus 0 0 3 0 0 0 0 0 3
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
Center of Medical Genetics and Primary Health Care 0 0 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 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
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 1 0 0 0 0 2
Division of Medical Genetics,Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi 0 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 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,Causeway Health Care Private Ltd 1 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 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
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
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 0 0 0 0 0 1

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