ClinVar Miner

Variants studied for Diamond-Blackfan anemia 7

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
11 0 15 4 7 35

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
RPL11 11 14 4 6 33
LOC129929673, RPL11 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 6 1 5 12
Revvity Omics, Revvity Omics 3 4 0 0 7
Fulgent Genetics, Fulgent Genetics 0 3 3 1 7
OMIM 6 0 0 0 6
3billion 2 0 0 0 2
Baylor Genetics 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 1
Genome-Nilou Lab 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 1

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