ClinVar Miner

Variants studied for beta-thalassemia HBB/LCRB

Included ClinVar conditions (7):
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
81 23 32 4 2 1 138

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HBB, LOC106099062, LOC107133510 61 16 17 2 2 1 95
HBB, LOC107133510, LOC110006319 17 7 15 2 0 0 40
A-GAMMA3'E, BGLT3, HBB, HBB-LCR, HBD, HBE1, HBG1, HBG2, HS-E1, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC107133510, LOC109951029, LOC110006319, OR51B4 1 0 0 0 0 0 1
A-GAMMA3'E, BGLT3, HBB, HBD, HBG1, LOC106099062, LOC106099063, LOC106099064, LOC107133510, LOC109951029, LOC110006319 1 0 0 0 0 0 1
A-GAMMA3'E, BGLT3, HBE1, HBG1, HBG2, HS-E1, LOC106099064, LOC106099065, LOC109951029 1 0 0 0 0 0 1
HBB, HBB-3'HS1, HBD, LOC106099062, LOC106099063, LOC107133510, LOC109951029, LOC110006319, LOC110008579, LOC110013311, OR51V1 1 0 0 0 0 0 1
HBB, HBD, LOC106099062, LOC106099063, LOC107133510, LOC109951029, LOC110006319 1 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 57 19 28 3 1 0 108
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 19 0 0 0 0 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 1 0 0 0 0 18
MGZ Medical Genetics Center 13 0 1 0 0 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 0 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 11 0 0 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 7 2 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 8 0 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 0 0 0 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 0 1 0 0 0 5
Lifecell International Pvt. Ltd 5 0 0 0 0 0 5
3billion, Medical Genetics 3 1 0 0 0 0 4
Institute of Human Genetics, Heidelberg University 3 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
OMIM 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 1
Precision Medicine Lab Center, Yangjiang People's Hospital 1 0 0 0 0 0 1

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