ClinVar Miner

Variants studied for Diamond-Blackfan anemia 1

Included ClinVar conditions (3):
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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
184 47 431 455 121 1212

Gene and significance breakdown #

Total genes and gene combinations: 34
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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 51 17 66 64 17 206
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 1 2 3 0 7
RPS10 0 1 2 3 1 7
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
RPL17, RPL17-C18orf32 0 1 0 1 0 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
ASAP3, CNR2, E2F2, ELOA, FUCA1, GALE, GRHL3, HMGCL, HNRNPR, HTR1D, ID3, IFNLR1, IL22RA1, KDM1A, LUZP1, LYPLA2, MDS2, MYOM3, PITHD1, PNRC2, RPL11, SRSF10, TCEA3, ZNF436 1 0 0 0 0 1
BRDT, BTBD8, C1orf146, CDC7, DIPK1A, EPHX4, EVI5, GFI1, GLMN, HFM1, RPAP2, RPL5, SNORD21, TGFBR3 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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 117 21 383 381 108 1010
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 2 2 0 1 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 4
Baylor Genetics 0 0 3 0 0 3
3billion 1 1 1 0 0 3
Mendelics 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 2
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 0 1 0 1 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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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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