ClinVar Miner

Variants studied for beta Thalassemia

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
280 51 55 23 27 44 389

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HBB, LOC106099062, LOC107133510 201 34 41 14 11 33 270
HBB, LOC107133510, LOC110006319 54 14 13 9 16 9 92
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
PJVK 1 0 0 0 0 0 1
TNNT2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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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 71 15 4 5 1 0 96
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
Mendelics 4 0 0 1 5 0 10
3billion 4 2 0 0 0 0 6
Baylor Genetics 5 0 0 0 0 0 5
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
OMIM 3 0 0 0 0 0 3
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
Neuberg Centre For Genomic Medicine, NCGM 1 2 0 0 0 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
Genetics and Molecular Pathology, SA Pathology 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
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
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
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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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
Suma Genomics 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

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