ClinVar Miner

Variants studied for Diamond-Blackfan anemia 1

Included ClinVar conditions (3):
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
180 43 427 454 121 1199

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GATA1 31 2 117 68 43 261
DIPK1A, RPL5 37 7 83 68 14 206
RPS19 48 15 64 64 17 199
RPL11 23 9 32 50 11 121
RPS10, RPS10-NUDT3 4 1 43 53 8 106
RPS24 5 1 30 53 7 93
RPL26 0 0 29 31 5 63
LOC129929673, RPL11 2 0 3 11 4 20
RPS26 7 4 2 3 1 17
RPS7 1 0 4 10 0 15
RPL5 3 0 4 4 4 14
IQCG, RPL35A 1 2 6 4 0 13
RPL19 0 0 0 11 1 12
LOC130004144, RPS24 2 0 0 7 0 9
RPS17 3 0 0 6 0 9
MIR6797, RPS19 1 0 2 3 0 6
RPS10 0 1 1 3 1 6
GATA1, LOC119407405 0 0 1 2 2 5
HEATR3 4 1 0 0 0 5
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 1 0 2 0 0 3
GATA1, GLOD5, SUV39H1, WAS 1 0 1 0 0 2
LOC130004143, POLR3A, RPS24 0 0 0 2 0 2
LOC130004144, POLR3A, RPS24 0 0 0 1 2 2
RPS20 2 0 0 0 0 2
TP53 2 0 0 0 0 2
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B 0 0 1 0 0 1
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC105371520, LOC106794092, LOC112533665, LOC116276454, LOC121587574, LOC121587575, LOC124904106, LOC126862483, LOC126862484, LOC126862485, LOC129390832, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, LOC130060228, LOC130060229, LOC130060230, LOC130060231, LOC130060232, LOC130060233, LOC130060234, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246, 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 1
ARHGEF15, KRBA2, ODF4, RANGRF, RPL26, SLC25A35 0 0 1 0 0 1
DIPK1A, RPL5, SNORA66 0 0 0 0 1 1
DIPK1A, RPL5, SNORD21 1 0 0 0 0 1
ZNF699 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 115 21 381 381 108 1006
Ambry Genetics 58 20 25 84 9 196
Illumina Laboratory Services, Illumina 0 0 17 14 14 45
Fulgent Genetics, Fulgent Genetics 0 0 4 9 1 14
OMIM 9 0 0 0 0 9
Revvity Omics, Revvity 3 0 3 0 0 6
Baylor Genetics 0 0 3 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 1 3
3billion 1 1 1 0 0 3
Mendelics 0 0 0 2 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 2
Department of Pediatrics, Hirosaki University Graduate School of Medicine 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 2
Bertuch Lab, Baylor College of Medicine 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Hematology Diagnostic Laboratory, Assistance Publique-Hôpitaux de Paris - Robert Debre Hospital 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Gene Mapping Laboratory, Hacettepe University 1 0 0 0 0 1
Leuven Cancer Institute, KU Leuven and UZ Leuven 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 1

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