ClinVar Miner

Variants in gene MEN1

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 not provided total
244 95 401 264 37 8 964

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 1 124 36 296 52 10 5 511
Hereditary cancer-predisposing syndrome 94 38 124 98 4 0 357
not provided 77 26 34 173 27 0 329
not specified 7 2 9 28 16 4 58
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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 99 20 285 203 26 0 633
Ambry Genetics 94 38 120 97 4 0 353
GeneDx 70 25 13 24 6 0 138
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 19 5 4 6 9 0 43
OMIM 34 0 0 0 0 0 34
Illumina Clinical Services Laboratory,Illumina 0 0 24 9 0 0 33
PreventionGenetics,PreventionGenetics 1 0 6 11 8 0 26
Integrated Genetics/Laboratory Corporation of America 3 11 3 1 1 4 23
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 0 6 0 3 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 2 0 0 11
Center for Human Genetics, Inc 4 3 1 1 0 0 9
GeneKor MSA 0 0 8 0 0 0 8
Athena Diagnostics Inc 4 0 0 0 2 0 6
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
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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 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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