ClinVar Miner

Variants studied for Diamond-Blackfan anemia

Included ClinVar conditions (22):
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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 association risk factor not provided total
254 70 618 624 176 1 1 1 1660

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
GATA1 31 2 117 68 43 0 0 0 261
DIPK1A, RPL5 45 15 97 72 17 1 1 0 230
RPS19 48 14 63 64 17 0 0 0 197
RPS7 7 4 64 68 13 0 0 0 150
RPL11 31 9 42 52 12 0 0 0 134
RPS10, RPS10-NUDT3 6 1 51 55 16 0 0 0 121
RPS26 18 11 33 52 7 0 0 0 114
RPS24 8 3 40 58 10 0 0 0 113
IQCG, RPL35A 9 5 46 42 7 0 0 0 103
RPL26 1 0 30 32 6 0 0 1 67
RPL5 5 1 10 10 10 0 0 0 30
LOC129929673, RPL11 2 0 4 11 4 0 0 0 21
LOC130004144, RPS24 3 0 4 11 4 0 0 0 21
RPS17 6 1 0 6 0 0 0 0 13
RPL19 0 0 0 10 1 0 0 0 11
NKIRAS1, RPL15 6 1 3 0 0 0 0 0 10
MIR6797, RPS19 1 0 2 3 0 0 0 0 6
RPS10 0 1 1 3 1 0 0 0 6
GATA1, LOC119407405 0 0 1 2 2 0 0 0 5
HEATR3 5 1 0 0 0 0 0 0 5
RPS29 2 1 1 1 0 0 0 0 4
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 1 0 2 0 0 0 0 0 3
GATA1, GLOD5, SUV39H1, WAS 1 0 1 0 0 0 0 0 2
LOC126805872, RPS27 1 0 0 0 1 0 0 0 2
LOC130004143, POLR3A, RPS24 0 0 0 2 0 0 0 0 2
LOC130004144, POLR3A, RPS24 0 0 0 1 2 0 0 0 2
RPL27 0 0 1 0 1 0 0 0 2
RPS20 2 0 0 0 0 0 0 0 2
RPS28 1 0 0 0 1 0 0 0 2
TP53 2 0 0 0 0 0 0 0 2
TSR2 1 0 0 1 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 0 0 0 1
ADI1, COLEC11, RNASEH1, RPS7, TRAPPC12 0 0 1 0 0 0 0 0 1
ADI1, RNASEH1, RPS7, TRAPPC12 0 0 1 0 0 0 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 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 0 1
ARHGEF15, KRBA2, ODF4, RANGRF, RPL26, SLC25A35 0 0 1 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 0 1
DIPK1A, RPL5, SNORA66 0 0 0 0 1 0 0 0 1
DIPK1A, RPL5, SNORD21 1 0 0 0 0 0 0 0 1
FYTTD1, IQCG, 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 0 1
IKZF4, LOC116268441, RPS26 1 0 0 0 0 0 0 0 1
IKZF4, RPS26, SUOX 1 0 0 0 0 0 0 0 1
LOC126862570, RPL27 1 0 0 0 0 0 0 0 1
RPL18 1 0 0 0 0 0 0 0 1
RPL35 1 0 0 0 0 0 0 0 1
RPS15A 1 0 0 0 0 0 0 0 1
ZNF699 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 130 28 486 528 122 0 0 0 1294
Ambry Genetics 57 19 25 73 9 0 0 0 183
Illumina Laboratory Services, Illumina 0 0 57 38 75 0 0 0 169
Fulgent Genetics, Fulgent Genetics 1 0 31 68 6 0 0 0 106
OMIM 67 0 0 0 0 0 0 0 67
Revvity Omics, Revvity 9 7 29 0 0 0 0 0 45
Baylor Genetics 4 1 20 0 0 0 0 0 25
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 2 3 0 1 0 0 0 12
3billion 4 4 1 0 0 0 0 0 9
Genome-Nilou Lab 0 0 0 1 7 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 4 0 0 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 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 0 3 0 0 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 2 0 0 0 0 0 4
Mendelics 1 0 0 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 1 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 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 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 0 0 2
Department of Pediatrics, Hirosaki University Graduate School of Medicine 2 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 0 0 0 0 0 2
Bertuch Lab, Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences, Imam Abdulrahman Bin Faisal University 0 0 0 0 0 1 1 0 2
Hematology Diagnostic Laboratory, Assistance Publique-Hôpitaux de Paris - Robert Debre Hospital 2 0 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Research Group Niklas Dahl, Uppsala University 0 1 0 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 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 0 1 0 0 0 0 1
Gene Mapping Laboratory, Hacettepe University 1 0 0 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 0 0 0 1
Pediatric Oncology and Hematology Unit, National and Kapodistrian University of Athens 0 1 0 0 0 0 0 0 1
Leuven Cancer Institute, KU Leuven and UZ Leuven 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 0 0 1

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