ClinVar Miner

Variants studied for Multiple endocrine neoplasia, type 1

Coded as:
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
351 126 911 678 52 7 2017

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MEN1 346 111 909 678 52 7 1995
RET 0 14 0 0 0 0 14
MAP4K2, MEN1 4 0 0 0 0 0 4
ATM, C11orf65 0 0 1 0 0 0 1
BAD, CATSPERZ, CCDC88B, COX8A, DNAJC4, ESRRA, FERMT3, FKBP2, FLRT1, GPR137, KCNK4, MACROD1, MAP4K2, MEN1, NRXN2, NUDT22, OTUB1, PLCB3, PPP1R14B, PRDX5, PYGM, RASGRP2, RPS6KA4, SF1, SLC22A11, SLC22A12, STIP1, TRMT112, TRPT1, VEGFB 1 0 0 0 0 0 1
CDC73 0 1 0 0 0 0 1
STK11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 324 59 789 650 40 0 1862
All of Us Research Program, National Institutes of Health 5 0 127 88 2 0 222
Baylor Genetics 7 7 115 0 0 0 129
Illumina Laboratory Services, Illumina 0 1 22 3 20 0 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 19 1 1 0 2 45
Myriad Genetics, Inc. 15 5 6 5 4 0 35
OMIM 27 0 0 0 0 0 27
Mendelics 3 2 9 4 4 0 22
Counsyl 0 2 6 9 2 0 19
Color Diagnostics, LLC DBA Color Health 1 0 1 7 8 0 17
Database of Curated Mutations (DoCM) 0 14 0 0 0 0 14
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 5 5 2 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 1 2 2 1 0 11
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 6 4 0 11
Center for Human Genetics, Inc, Center for Human Genetics, Inc 4 3 1 1 0 0 9
Revvity Omics, Revvity 1 1 6 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 5 1 2 0 8
MGZ Medical Genetics Center 1 4 2 0 0 0 7
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine 3 4 0 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 1 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 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
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1
deCODE genetics, Amgen 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
New York Genome Center 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
DASA 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1

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