ClinVar Miner

Variants studied for beta-thalassemia HBB/LCRB

Included ClinVar conditions (4):
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 total
43 5 14 4 2 68

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HBB, LOC106099062, LOC107133510 35 4 8 2 2 51
HBB, LOC107133510, LOC110006319 7 1 6 2 0 16
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
Fulgent Genetics, Fulgent Genetics 25 1 10 3 1 40
MGZ Medical Genetics Center 13 0 1 0 0 14
Genetics and Molecular Pathology, SA Pathology 7 2 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 7 0 0 0 0 7
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 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
Mendelics 0 0 0 0 1 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 1 0 1
Suma Genomics 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 1

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