ClinVar Miner

Variants studied for Diamond-Blackfan anemia

Coded as:
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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
135 42 294 379 71 900

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
DIPK1A, RPL5 37 7 83 68 14 206
RPS19 37 14 49 58 12 166
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
RPS10 0 1 2 3 1 7
MIR6797, RPS19 1 1 1 3 0 6
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 1 0 2 0 0 3
HEATR3 1 1 0 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: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 85 19 264 311 63 742
Ambry Genetics 58 20 25 84 9 196
Illumina Laboratory Services, Illumina 0 0 6 9 6 21
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 2 0 0 4
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
Bertuch Lab, Baylor College of Medicine 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 1
Gene Mapping Laboratory, Hacettepe University 1 0 0 0 0 1

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