ClinVar Miner

Variants studied for Diamond-Blackfan anemia

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
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Gene type:

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 association not provided total
302 114 882 784 187 1 1 2156

Gene and significance breakdown #

Total genes and gene combinations: 57
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
GATA1 43 2 155 94 45 0 0 339
DIPK1A, RPL5 54 25 125 95 17 1 0 296
RPS19 59 24 87 83 18 0 0 255
RPS7 7 7 91 83 13 0 0 193
RPL11 36 14 63 74 12 0 0 178
RPS26 23 11 52 73 7 0 0 159
RPS10, RPS10-NUDT3 6 2 68 62 16 0 0 145
RPS24 9 3 60 66 14 0 0 145
DRC9, RPL35A 9 7 66 48 7 0 0 129
RPL26 3 3 38 35 6 0 1 82
RPL5 5 2 10 12 10 0 0 32
LOC130004144, RPS24 3 1 6 12 6 0 0 27
RPS17 6 2 12 8 0 0 0 27
LOC129929673, RPL11 2 0 5 13 4 0 0 24
NKIRAS1, RPL15 6 1 9 0 5 0 0 21
RPL19 0 0 0 14 1 0 0 15
GATA1, LOC119407405 0 0 4 3 2 0 0 9
HEATR3 5 2 3 0 0 0 0 9
MIR6797, RPS19 1 1 3 4 0 0 0 8
RPS20 2 0 1 2 1 0 0 6
RPS29 2 1 3 1 0 0 0 6
RPL18 1 2 2 0 0 0 0 4
ARHGEF15, CTC1, KRABD2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 1 0 2 0 0 0 0 3
RPS10 0 1 2 0 0 0 0 3
RPS28 1 0 1 0 1 0 0 3
GATA1, GLOD5, SUV39H1, WAS 1 0 1 0 0 0 0 2
LOC126805872, RPS27 1 0 0 0 1 0 0 2
LOC126862570, RPL27 1 0 1 0 0 0 0 2
RPL17, RPL17-C18orf32 0 1 0 1 0 0 0 2
RPL27 0 0 1 0 1 0 0 2
TP53 2 0 0 0 0 0 0 2
TSR2 1 0 0 1 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 0 0 1
ADI1, COLEC11, RNASEH1, RPS7, TRAPPC12 0 0 1 0 0 0 0 1
ADI1, RNASEH1, RPS7, TRAPPC12 0 0 1 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRABD2, 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 0 0 1
AP3B2, CPEB1, EFL1, GOLGA6L10, GOLGA6L9, LOC102724034, LOC113939947, LOC129390726, LOC130057764, LOC130057765, LOC130057766, LOC130057767, LOC130057768, LOC130057769, LOC130057770, LOC130057771, LOC130057772, LOC130057773, RPS17, SAXO2 1 0 0 0 0 0 0 1
ARHGEF15, KRABD2, ODF4, RANGRF, RPL26, SLC25A35 0 0 1 0 0 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 0 0 1
BDH1, DRC9, FAM157A, FYTTD1, LINC02012, LMLN, LOC107133517, LOC111828515, LOC112268458, LOC112935925, LOC112935926, LOC123464504, LOC123464505, LOC123464506, LOC126806936, LOC126806937, LOC126806938, LOC129389198, LOC129389199, LOC129389200, LOC129389201, LOC129938315, LOC129938316, LOC129938317, LOC129938318, LOC129938319, LOC129938320, LOC129938321, LOC129938322, LOC129938323, LOC129938324, LOC129938325, LOC129938326, LOC129938327, LOC129938328, LOC129938329, LOC129938330, LRCH3, MIR922, RPL35A, RUBCN 1 0 0 0 0 0 0 1
BRDT, BTBD8, C1orf146, CCDC18, DIPK1A, DR1, EPHX4, EVI5, FNBP1L, GFI1, GLMN, MTF2, RPAP2, RPL5, SNORD21, TMED5 1 0 0 0 0 0 0 1
BRDT, BTBD8, C1orf146, CDC7, DIPK1A, EPHX4, EVI5, GFI1, GLMN, HFM1, RPAP2, RPL5, SNORD21, TGFBR3 0 0 1 0 0 0 0 1
DIPK1A, RPL5, SNORD21 1 0 0 0 0 0 0 1
DRC9, FYTTD1, LMLN, LOC107133517, LOC112935925, LOC112935926, LOC123464506, LOC126806937, LOC126806938, LOC129389199, LOC129389200, LOC129389201, LOC129938318, LOC129938319, LOC129938320, LOC129938321, LOC129938322, LOC129938323, LOC129938324, LOC129938325, LOC129938326, LOC129938327, LOC129938328, LOC129938329, LOC129938330, LRCH3, RPL35A, RUBCN 1 0 0 0 0 0 0 1
DRC9, FYTTD1, LRCH3, RPL35A, RUBCN 1 0 0 0 0 0 0 1
FANCE, LOC129996245, LOC129996246, LOC129996247, LOC129996248, LOC129996249, MIR7111, RPL10A, TEAD3 0 0 1 0 0 0 0 1
HEATR3, LOC130058980 0 0 1 0 0 0 0 1
IKZF4, LOC116268441, RPS26 1 0 0 0 0 0 0 1
IKZF4, RPS26, SUOX 1 0 0 0 0 0 0 1
LOC112939935, RPL9 0 1 0 0 0 0 0 1
LOC126862157, RPL4 0 0 1 0 0 0 0 1
PHLDB1 0 0 1 0 0 0 0 1
RPL31 0 1 0 0 0 0 0 1
RPL35 1 0 0 0 0 0 0 1
RPL8 0 0 1 0 0 0 0 1
RPS15A 1 0 0 0 0 0 0 1
ZNF699 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 173 35 637 678 125 0 0 1648
Fulgent Genetics, Fulgent Genetics 2 0 162 71 6 0 0 241
Ambry Genetics 58 24 26 102 9 0 0 219
Illumina Laboratory Services, Illumina 0 0 51 29 70 0 0 150
Revvity Omics, Revvity 11 17 57 1 0 0 0 86
OMIM 68 0 0 0 0 0 0 68
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 1 6 25 0 0 35
Baylor Genetics 4 1 20 0 0 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 4 5 0 0 0 0 17
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 4 4 0 1 0 0 15
3billion 6 7 1 0 0 0 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 7 0 0 0 0 10
Genome-Nilou Lab 0 0 0 1 7 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 5 0 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 2 1 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 2 3 0 0 0 0 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 0 0 6
BloodGenetics 2 2 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 1 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 2 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 1 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 0 3 0 0 0 0 4
Mendelics 1 0 1 2 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 4 0 0 0 0 0 0 4
Precision Medical Center, Wuhan Children's Hospital 1 2 0 0 0 0 0 3
Suma Genomics 1 0 2 0 0 0 0 3
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 0 1 0 1 0 0 0 2
Bertuch Lab, Baylor College of Medicine 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 0 2
Clinical Laboratory Sciences, Imam Abdulrahman Bin Faisal University 1 0 0 0 0 1 0 2
Department of Pediatrics, Hirosaki University Graduate School of Medicine 2 0 0 0 0 0 0 2
Dr. Oladnabi Research Group, Golestan University of Medical Sciences 0 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 0 2
Hematology Diagnostic Laboratory, Assistance Publique-Hôpitaux de Paris - Robert Debre Hospital 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 1
Embryology Laboratory, Victor Chang Cardiac Research Institute 0 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 0 1
Gene Mapping Laboratory, Hacettepe University 1 0 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 0 1
Leuven Cancer Institute, KU Leuven and UZ Leuven 1 0 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
Pediatric Oncology and Hematology Unit, National and Kapodistrian University of Athens 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Research Group Niklas Dahl, Uppsala University 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 0 1 0 0 0 1

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