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
210 84 309 176 31 8 751

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple endocrine neoplasia, type 1 99 31 235 144 23 4 523
Hereditary cancer-predisposing syndrome 79 32 61 55 4 0 230
not provided 76 27 26 10 6 0 144
not specified 7 2 9 28 17 4 59
Hyperparathyroidism 0 0 25 9 0 0 34
Multiple endocrine neoplasia 0 0 24 9 1 0 33
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 stroma tumor; Parathyroid adenoma; Thyroid adenoma; Chronic diarrhea; Diabetes mellitus; Hypertension 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
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; Abnormality of calcium homeostasis; Calcium nephrolithiasis; Insulinoma 1 0 0 0 0 0 1
Pulmonary carcinoid tumor 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 76 16 226 136 21 0 475
Ambry Genetics 79 32 55 54 4 0 224
GeneDx 69 25 13 21 4 0 132
OMIM 34 0 0 0 0 0 34
Illumina Clinical Services Laboratory,Illumina 0 0 24 9 0 0 33
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 12 4 2 5 7 0 30
PreventionGenetics 1 0 6 11 8 0 26
Integrated Genetics/Laboratory Corporation of America 3 11 3 1 1 4 23
Counsyl 0 2 6 9 2 0 19
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 0 4 2 6 0 18
Mendelics 2 2 12 0 0 0 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 0 6 0 3 0 12
Center for Human Genetics, Inc 4 3 1 1 0 0 9
GeneKor MSA 0 0 8 0 0 0 8
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 4 0 2 0 6
Athena Diagnostics Inc 2 0 0 0 2 0 4
ITMI 0 0 0 0 0 4 4
Genome Sciences Centre,British Columbia Cancer Agency 0 4 0 0 0 0 4
Fulgent Genetics 0 0 3 0 0 0 3
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 2 0 0 3
Aziz Sancar Institute of Experimental Medicine,Istanbul University 1 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 1 0 0 2
Endocrine Unit 2,University Hospital of Pisa 1 0 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 1 1 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 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: University of Minnesota 1 0 0 0 0 0 1
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

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