ClinVar Miner

Variants studied for alpha 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
64 14 22 3 16 9 120

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HBA2, LOC106804612 28 8 10 2 9 6 57
HBA1, LOC106804613 12 6 11 1 6 1 36
HBA1, HBA2, HBQ1, LOC106804612, LOC106804613, LOC130058090, LOC130058091 5 0 0 0 0 0 5
HBA1, HBA2, LOC106804612, LOC106804613 4 0 0 0 0 0 4
HBA1, HBA2 3 0 0 0 0 0 3
HBA1, HBA2, HBZ 3 0 0 0 0 0 3
HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613, LOC130058090, LOC130058091 2 0 0 0 0 0 2
HBA1, HBA2, HBM, HBQ1 2 0 0 0 0 0 2
HBA1, HBA2, LOC106804612 1 0 1 0 0 1 2
HBA2 1 0 0 0 1 0 2
HBA1, HBA2, HBM, HBZ, LOC106804612, LOC106804613 1 0 0 0 0 0 1
HBA1, HBA2, HBM, LOC106804612, LOC106804613 1 0 0 0 0 0 1
HBB, HBD, LOC106099062, LOC106099063, LOC107133510, LOC110006319 1 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 0 1
NPRL3 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 17 5 20 3 9 0 54
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 21 0 0 0 9 0 30
GeneReviews 7 0 0 0 0 8 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 3 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 4 1 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
3billion 1 2 1 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Counsyl 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Thalassemia Center, San Luigi University Hospital 0 1 0 0 0 0 1

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