ClinVar Miner

Variants studied for Diamond-Blackfan anemia 10

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
18 7 31 51 7 110

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
RPS26 16 7 31 51 7 108
IKZF4, LOC116268441, RPS26 1 0 0 0 0 1
IKZF4, RPS26, SUOX 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 8 3 22 46 2 81
Illumina Laboratory Services, Illumina 0 0 4 8 7 19
Fulgent Genetics, Fulgent Genetics 0 0 3 11 1 15
OMIM 8 0 0 0 0 8
Revvity Omics, Revvity Omics 1 4 3 0 0 8
Broad Institute Rare Disease Group, Broad Institute 2 0 1 0 0 3
Baylor Genetics 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 1

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