ClinVar Miner

Variants studied for Beta-thalassemia HBB/LCRB

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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 total
37 4 6 1 1 49

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HBB, LOC106099062, LOC107133510 31 3 3 0 1 38
HBB, LOC107133510, LOC110006319 4 1 3 1 0 9
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 1
A-GAMMA3'E, BGLT3, HBB, HBD, HBG1, LOC106099062, LOC106099063, LOC106099064, LOC107133510, LOC109951029, LOC110006319 1 0 0 0 0 1
A-GAMMA3'E, BGLT3, HBE1, HBG1, HBG2, HS-E1, LOC106099064, LOC106099065, LOC109951029 1 0 0 0 0 1
HBB, HBD, LOC106099062, LOC106099063, LOC107133510, LOC109951029, LOC110006319 1 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 19 0 0 0 0 19
MGZ Medical Genetics Center 13 0 1 0 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 0 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 7 2 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 9 0 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 0 1 0 0 5
Lifecell International Pvt. Ltd 5 0 0 0 0 5
3billion 3 1 0 0 0 4
Baylor Genetics 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 1 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 1

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