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
85 35 16 11 4 1 135

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 63 27 9 5 1 0 91
HBB, LOC107133510, LOC110006319 19 6 6 6 3 0 37
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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Integrated Genetics/Laboratory Corporation of America 47 9 12 10 1 0 79
Counsyl 32 25 0 1 0 0 58
GeneReviews 42 0 0 0 0 0 42
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 Miraca Genetics Laboratories, 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
Core Molecular Diagnostic Lab,McGill University Health Centre 1 1 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Bodamer Research Lab,Boston Children's Hospital 0 0 1 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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