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
276 39 34 12 25 1 343

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HBB, LOC106099062, LOC107133510 201 27 22 5 10 0 237
HBB, LOC107133510, LOC110006319 53 9 11 7 15 0 82
HBB, LOC106099062, LOC107133510, LOC110006319 14 3 1 0 0 0 15
HBB 8 0 0 0 0 0 8
LOC106099062, LOC107133510 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 29
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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
Integrated Genetics/Laboratory Corporation of America 61 12 5 5 1 0 84
GeneReviews 42 0 0 0 0 0 42
Counsyl 18 21 1 1 0 0 41
Natera, Inc. 7 1 13 4 7 0 32
Myriad Women's Health, Inc. 21 6 0 0 0 0 27
Illumina Clinical Services Laboratory,Illumina 1 1 15 1 1 0 19
Mendelics 4 0 1 1 5 0 11
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
Centogene AG - the Rare Disease Company 4 0 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
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
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
Genetic Services Laboratory,University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Pediatric Molecular Hematology,Schneider Children's Medical Center of Israel 1 0 0 0 0 0 1
Medical Biology Lab, Gaziantep University 0 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 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
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
Genetic Services Unit,National Institute of Biomedical Genomics 1 0 0 0 0 0 1

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