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
89 36 17 12 9 1 141

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 66 26 10 5 4 0 95
HBB, LOC107133510, LOC110006319 20 8 6 7 5 0 39
HBB, LOC106099062, LOC107133510, LOC110006319 1 2 1 0 0 0 4
HBB 2 0 0 0 0 0 2
LOC106099062, LOC107133510 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Integrated Genetics/Laboratory Corporation of America 47 9 11 10 1 0 78
Counsyl 38 27 1 1 0 0 67
GeneReviews 42 0 0 0 0 0 42
Mendelics 4 0 1 1 5 0 11
Illumina Clinical Services Laboratory,Illumina 1 1 3 0 1 0 6
College of Science, Al Muthanna University,Al Muthanna University 1 0 0 0 4 0 5
OMIM 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
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
NIHR Bioresource Rare Diseases, University of Cambridge 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
Natera Inc 1 0 0 0 0 0 1

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