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
196 51 494 511 121 1344

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GATA1 37 2 138 80 43 300
RPS19 54 17 79 72 17 229
DIPK1A, RPL5 39 8 90 80 14 228
RPL11 24 9 38 60 11 138
RPS10, RPS10-NUDT3 4 1 45 57 8 112
RPS24 5 1 34 55 7 99
RPL26 0 0 34 32 5 69
LOC129929673, RPL11 2 0 3 13 4 22
RPS26 7 4 2 3 1 17
RPL5 3 2 4 5 4 16
RPS7 1 0 4 11 0 16
IQCG, RPL35A 1 2 6 4 0 13
RPL19 0 0 0 11 1 12
LOC130004144, RPS24 2 0 0 8 0 10
RPS17 3 0 0 6 0 9
GATA1, LOC119407405 0 0 3 3 2 8
MIR6797, RPS19 1 1 3 4 0 8
RPS10 0 1 2 3 1 7
HEATR3 4 1 0 0 0 5
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 1 0 2 0 0 3
RPS20 2 0 1 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
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
LOC112939935, RPL9 0 1 0 0 0 1
RPL8 0 0 1 0 0 1
ZNF699 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 131 23 439 437 108 1138
Ambry Genetics 58 21 25 86 9 199
Illumina Laboratory Services, Illumina 0 0 17 14 14 45
Fulgent Genetics, Fulgent Genetics 0 0 13 11 1 25
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, Medical Genetics 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 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
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 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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