ClinVar Miner

Variants studied for beta thalassemia

Included ClinVar conditions (9):
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
284 58 62 27 27 45 405

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
HBB, LOC106099062, LOC107133510 203 42 43 16 11 34 278
HBB, LOC107133510, LOC110006319 58 13 18 11 16 9 102
HBB, LOC106099062, LOC107133510, LOC110006319 15 3 1 0 0 1 16
HBB 4 0 0 0 0 0 4
HBA2, LOC106804612 3 0 0 0 0 0 3
HBB, HBB-LCR 1 0 0 0 0 0 1
LOC106099062, LOC107133510 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 58
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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 80 14 4 5 1 0 104
Fulgent Genetics, Fulgent Genetics 32 3 10 3 1 0 49
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
Illumina Laboratory Services, Illumina 1 1 14 0 1 0 17
Genome-Nilou Lab 11 0 1 0 4 0 16
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 6 2 0 6 0 0 14
MGZ Medical Genetics Center 13 0 1 0 0 0 14
Genetics and Molecular Pathology, SA Pathology 9 3 1 0 0 0 13
Mendelics 4 0 0 1 6 0 11
3billion 8 3 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 8 2 0 0 0 0 10
OMIM 8 0 0 0 0 0 8
Baylor Genetics 5 0 2 0 0 0 7
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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Medical Biology Lab, Gaziantep University 0 0 0 0 0 1 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, 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
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 1 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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