ClinVar Miner

Variants studied for Diamond-Blackfan anemia 6

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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 association risk factor total
15 9 33 19 18 1 1 86

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 association risk factor total
DIPK1A, RPL5 12 8 27 12 9 1 1 64
RPL5 2 1 6 7 9 0 0 21
BRDT, BTBD8, C1orf146, CCDC18, DIPK1A, DR1, EPHX4, EVI5, FNBP1L, GFI1, GLMN, MTF2, RPAP2, RPL5, SNORD21, TMED5 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor total
Illumina Laboratory Services, Illumina 0 0 11 3 18 0 0 32
Fulgent Genetics, Fulgent Genetics 1 0 10 17 0 0 0 28
Revvity Omics, Revvity Omics 2 3 6 0 0 0 0 11
OMIM 8 0 0 0 0 0 0 8
Baylor Genetics 2 1 2 0 0 0 0 5
3billion 1 3 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Clinical Laboratory Sciences, Imam Abdulrahman Bin Faisal University 0 0 0 0 0 1 1 2
Mendelics 1 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1

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