ClinVar Miner

Variants studied for beta-thalassemia and related diseases

Included ClinVar conditions (14):
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
295 63 69 30 27 45 425

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HBB, LOC106099062, LOC107133510 207 44 44 16 11 34 282
HBB, LOC107133510, LOC110006319 60 15 20 12 16 9 106
HBB, LOC106099062, LOC107133510, LOC110006319 15 3 1 0 0 1 16
GATA1 2 1 4 2 0 0 9
HBB 5 0 0 0 0 0 5
HBA2, LOC106804612 3 0 0 0 0 0 3
A-GAMMA3'E, BGLT3, HBB, HBB-LCR, HBD, HBE1, HBG1, HBG2, HS-E1, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC107133510, LOC109951029, LOC110006319, OR51B4 1 0 0 0 0 0 1
A-GAMMA3'E, BGLT3, HBB, HBD, HBG1, LOC106099062, LOC106099063, LOC106099064, LOC107133510, LOC109951029, LOC110006319 1 0 0 0 0 0 1
A-GAMMA3'E, BGLT3, HBE1, HBG1, HBG2, HS-E1, LOC106099064, LOC106099065, LOC109951029 1 0 0 0 0 0 1
HBB, HBB-LCR 1 0 0 0 0 0 1
HBB, HBD, LOC106099062, LOC106099063, LOC107133510, LOC109951029, LOC110006319 1 0 0 0 0 0 1
HBD, LOC109951029 1 0 0 0 0 0 1
LOC106099062, LOC107133510 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 241 0 0 0 17 0 258
Natera, Inc. 76 4 35 11 8 0 134
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 91 17 4 5 1 0 118
Fulgent Genetics, Fulgent Genetics 32 4 13 5 1 0 55
GeneReviews 0 0 0 0 0 42 42
Counsyl 18 21 1 1 0 0 41
Myriad Genetics, Inc. 21 6 0 0 0 0 27
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 20 1 0 0 0 0 21
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 20 0 0 0 0 0 20
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 8 3 0 7 0 0 18
Illumina Laboratory Services, Illumina 1 1 14 0 1 0 17
Genome-Nilou Lab 11 0 1 0 4 0 16
MGZ Medical Genetics Center 13 0 1 0 0 0 14
OMIM 13 0 0 0 0 0 13
Genetics and Molecular Pathology, SA Pathology 9 3 1 0 0 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 0 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 10 2 0 0 0 0 12
Mendelics 4 0 0 1 6 0 11
3billion 8 3 0 0 0 0 11
Baylor Genetics 5 0 3 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 0 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 8 0 0 0 0 0 8
Centogene AG - the Rare Disease Company 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 0 0 0 0 0 5
College of Science, Al Muthanna University, Al Muthanna University 1 0 0 0 4 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 0 1 0 0 0 5
Lifecell International Pvt. Ltd 5 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 0 0 0 0 4
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province 1 0 0 0 2 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 1 1 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 1 1 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Pediatric Molecular Hematology, Schneider Children's Medical Center of Israel 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
Medical Biology Lab, Gaziantep University 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Bodamer Research Lab, Boston Children's Hospital 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Hb Lab, Kinderklinik Ulm, University Hospital Ulm 1 0 0 0 0 0 1
Genetics Service Unit, BRIC-National Institute of Biomedical Genomics 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1
Department of Pathology, Krishna Institute of Medical Sciences “Deemed To Be University”, Karad 1 0 0 0 0 0 1
Genetic Laboratory, Salmaniya Medical Complex 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 1

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