ClinVar Miner

Variants studied for Multiple endocrine neoplasia, type 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
420 157 1067 871 354 7 2442

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MEN1 415 156 1063 871 353 7 2431
MAP4K2, MEN1 4 0 0 0 0 0 4
PLCG1 0 0 2 0 0 0 2
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
CDKN1B 0 0 0 0 1 0 1
STK11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 388 76 850 811 58 0 2183
Myriad Genetics, Inc. 26 10 2 87 305 0 430
All of Us Research Program, National Institutes of Health 7 2 172 101 2 0 284
Color Diagnostics, LLC DBA Color Health 3 2 93 106 11 0 215
Baylor Genetics 7 7 115 0 0 0 129
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 45 27 0 1 0 1 74
Illumina Laboratory Services, Illumina 0 2 22 3 20 0 47
OMIM 27 0 0 0 0 0 27
Mendelics 3 2 8 4 4 0 21
Department of Pathology and Laboratory Medicine, Sinai Health System 4 5 4 3 4 0 20
Fulgent Genetics, Fulgent Genetics 0 2 15 1 2 0 20
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 6 13 0 20
Counsyl 0 2 6 9 2 0 19
Molecular Pathology, Peter Maccallum Cancer Centre 3 8 3 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
Revvity Omics, Revvity 1 2 7 0 0 0 10
Center for Human Genetics, Inc, Center for Human Genetics, Inc 4 3 1 1 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 1 2 1 0 0 7
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine 3 4 0 0 0 0 7
MGZ Medical Genetics Center 1 4 2 0 0 0 7
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 6 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 3 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 4 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 1 0 0 0 0 5
Cancer Genetics and Diagnostic Laboratory, The Kolling Institute 0 2 2 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 1 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 3
Medical and Scientific Branch, Hong Kong Genome Institute 2 1 0 0 0 0 3
3billion 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Dasa 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
MVZ Martinsried, Medicover Genetics 1 0 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 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
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
GeneKor MSA 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.