ClinVar Miner

Variants in gene MEN1

Minimum submission review status: Collection method:
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Gene type:
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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
318 112 623 314 46 9 1308

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple endocrine neoplasia, type 1 197 51 544 238 40 6 1044
Hereditary cancer-predisposing syndrome 97 35 123 99 4 0 357
not provided 100 30 35 78 7 0 248
not specified 7 2 10 29 16 4 60
Hyperparathyroidism 0 0 44 9 4 0 57
none provided 5 3 1 2 5 0 16
Multiple endocrine neoplasia 0 0 9 1 1 0 11
Metastatic pancreatic neuroendocrine tumours 0 4 0 0 0 0 4
Somatotroph adenoma 1 2 0 0 0 0 3
Angiofibroma, somatic 2 0 0 0 0 0 2
Primary hyperparathyroidism 1 0 1 0 0 0 2
Adenoma of the adrenal gland 1 0 0 0 0 0 1
Ependymoma 1 0 0 0 0 0 1
Familial isolated hyperparathyroidism 0 0 1 0 0 0 1
Gastrointestinal stromal tumor; Parathyroid adenoma; Thyroid adenoma (disease); Chronic diarrhea; Diabetes mellitus; Hypertensive disorder 1 0 0 0 0 0 1
Hyperparathyroidism 1 1 0 0 0 0 0 1
Leukodystrophy; Dystonia; Developmental regression; Abnormality of the cerebral white matter 0 0 1 0 0 0 1
Lipoma, somatic 1 0 0 0 0 0 1
Lung carcinoid tumor 1 0 0 0 0 0 1
Neuroblastoma 0 0 1 0 0 0 1
Parathyroid adenoma, somatic 1 0 0 0 0 0 1
Primary hyperparathyroidism; Medullary thyroid carcinoma; Parathyroid adenoma; Calcium nephrolithiasis; Pancreatic insulin-producing neuroendocrine tumor; Abnormal concentration of calcium in blood 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 179 30 511 257 29 0 1006
Ambry Genetics 97 35 119 98 4 0 353
GeneDx 70 25 13 24 6 0 138
Illumina Clinical Services Laboratory,Illumina 0 0 43 11 20 0 55
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 24 8 5 8 9 0 54
OMIM 32 0 0 0 0 0 32
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 25 4 0 0 0 0 29
Integrated Genetics/Laboratory Corporation of America 4 12 4 2 1 4 27
PreventionGenetics, PreventionGenetics 1 0 6 11 8 0 26
Mendelics 3 2 13 3 2 0 23
Counsyl 0 2 6 9 2 0 19
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 0 4 2 6 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 9 7 0 0 18
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 0 6 0 3 0 12
Athena Diagnostics Inc 6 0 0 1 4 0 11
Center for Human Genetics, Inc,Center for Human Genetics, Inc 4 3 1 1 0 0 9
GeneKor MSA 0 0 8 0 0 0 8
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 4 0 2 0 6
ITMI 0 0 0 0 0 4 4
Genome Sciences Centre,British Columbia Cancer Agency 0 4 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 0 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 1 2 0 0 3
Aziz Sancar Institute of Experimental Medicine,Istanbul University 1 2 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 1 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 1 0 0 0 2
Endocrine Unit 2,University Hospital of Pisa 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 1 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Liaoning Provincial Key Laboratory of Endocrine Diseases,The First Hospital of China Medical University 1 0 0 0 0 0 1

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