ClinVar Miner

Variants studied for Diamond-Blackfan anemia

Included ClinVar conditions (19):
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 risk factor total
94 10 83 70 17 1 272

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
RPS19 15 3 14 11 3 0 45
DIPK1A, RPL5 16 3 11 6 0 1 36
RPL11 12 1 7 5 2 0 26
RPS10, RPS10-NUDT3 4 0 7 12 3 0 26
RPS7 2 1 11 7 2 0 23
RPS24 7 0 5 9 1 0 22
RPS26 8 1 6 4 3 0 22
IQCG, RPL35A 8 0 4 6 0 0 18
RPL5 1 0 8 6 0 0 15
GATA1 5 1 5 0 1 0 12
POLR3A, RPS24 0 0 0 3 1 0 4
RPL26 1 0 3 0 0 0 4
RPS17 4 0 0 0 0 0 4
RPS29 2 0 1 0 0 0 3
NKIRAS1, RPL15 1 0 1 0 0 0 2
TP53 2 0 0 0 0 0 2
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC106794092, LOC112533665, LOC116276454, MIR4314, MIR4521, MIR6883, NAA38, ODF4, PER1, PFAS, RANGRF, RNF227, RPL26, SCARNA21, SLC25A35, SNORD118, TMEM107, TMEM88, TP53, TRAPPC1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, VAMP2, WRAP53 1 0 0 0 0 0 1
DIPK1A, RPL5, SNORA66 0 0 0 0 1 0 1
IKZF4, LOC116268441, RPS26 1 0 0 0 0 0 1
RPL27 1 0 0 0 0 0 1
RPS10 0 0 0 1 0 0 1
RPS27 1 0 0 0 0 0 1
RPS28 1 0 0 0 0 0 1
TSR2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 44 64 14 0 122
Invitae 35 7 32 6 5 0 85
OMIM 55 0 0 0 0 0 55
GeneReviews 9 0 0 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
University of Washington Center for Mendelian Genomics,University of Washington 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Mendelics 0 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Department of Pediatrics,Hirosaki University Graduate School of Medicine 2 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Research Group Niklas Dahl,Uppsala University 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 0 1
Clinical Laboratory Sciences,Imam Abdulrahman Bin Faisal University 0 0 0 0 0 1 1

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