ClinVar Miner

Variants in gene RET

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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 44 715 460 79 1 15 24 1270

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Hereditary cancer-predisposing syndrome 26 2 309 196 17 0 0 0 546
Multiple endocrine neoplasia, type 2 78 6 429 37 1 0 0 0 543
not provided 32 4 82 290 56 0 0 0 435
Multiple endocrine neoplasia, type 2a 47 18 118 52 16 0 0 0 229
not specified 14 0 94 47 31 0 0 23 184
Multiple endocrine neoplasia, type 2b 9 15 43 24 5 0 0 0 93
Pheochromocytoma 8 0 53 31 2 0 0 0 93
Hirschsprung Disease, Dominant 0 0 53 33 2 0 0 0 88
Multiple endocrine neoplasia 0 0 54 31 5 0 0 0 88
Renal hypodysplasia/aplasia 1 0 0 55 31 2 0 0 0 88
Hirschsprung disease 6 10 8 3 1 0 0 0 26
Medullary thyroid carcinoma 2 18 4 2 0 0 0 0 25
Hirschsprung disease 1 2 3 0 1 1 0 15 0 22
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
Familial medullary thyroid carcinoma 15 1 0 0 1 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
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
Ependymoma 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
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
B lymphoblastic leukemia lymphoma with hyperdiploidy 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
Congenital anomalies of kidney and urinary tract 0 0 1 0 0 0 0 0 1
Congenital central hypoventilation 1 0 0 0 0 0 0 0 1
Elevated basal serum calcitonin 0 0 0 1 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 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
MEN2 phenotype: Unclassified 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
Multiple endocrine neoplasia IIA 1 0 0 0 0 0 0 0 1
Pilocytic astrocytoma 0 0 1 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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Invitae 30 5 428 292 45 0 0 0 800
Ambry Genetics 27 1 301 194 16 0 0 0 539
Research and Development, ARUP Laboratories 103 0 77 0 7 0 0 0 186
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
Illumina Clinical Services Laboratory,Illumina 0 0 53 33 2 0 0 0 88
Mendelics 2 0 48 10 10 0 0 0 70
OMIM 33 0 2 0 0 1 15 0 51
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 12 0 17 5 14 0 0 0 48
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 23 1 5 5 11 0 0 0 45
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 1 14 6 14 0 0 0 40
ITMI 0 0 0 0 0 0 0 23 23
Fulgent Genetics,Fulgent Genetics 2 1 15 0 0 0 0 0 18
CSER _CC_NCGL, University of Washington 1 0 12 5 0 0 0 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 9 0 0 0 0 18
Database of Curated Mutations (DoCM) 1 18 0 0 0 0 0 0 18
Athena Diagnostics Inc 6 0 1 0 10 0 0 0 17
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 10 1 4 0 0 0 16
GeneKor MSA 0 1 13 0 0 0 0 0 14
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 3 7 1 0 1 0 0 0 12
Integrated Genetics/Laboratory Corporation of America 3 1 4 0 3 0 0 0 11
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 6 1 2 1 0 0 0 0 10
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 6 0 0 0 0 0 6
Center for Human Genetics, Inc 3 0 2 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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 3 0 0 0 4
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 3 1 0 0 0 0 0 0 4
Vantari Genetics 0 0 0 1 3 0 0 0 4
ISCA site 6 0 0 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 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
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
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
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
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
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 Russian Research Center 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 0 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

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