ClinVar Miner

Variants studied for anemia (disease)

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 risk factor not provided total
1899 722 5904 1371 513 40 57 10122

Gene and significance breakdown #

Total genes and gene combinations: 248
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
BRIP1 127 75 904 119 12 0 0 1204
FANCA 108 110 272 44 8 0 0 510
RAD51C 61 38 339 45 6 0 0 474
TERT 44 11 306 59 11 0 2 412
SLX4 16 5 287 56 6 0 0 368
CUBN 9 43 234 34 34 0 2 340
FANCM 0 1 236 23 10 1 0 264
AOPEP, FANCC 18 42 162 24 4 0 0 239
FANCI 13 6 171 26 4 0 0 219
RTEL1, RTEL1-TNFRSF6B 19 39 143 11 10 0 0 214
LPIN2 7 2 144 37 17 0 8 198
BRCA2 39 1 62 77 18 0 1 196
APOB 21 0 101 37 0 0 0 159
FANCC 26 30 81 13 1 0 0 138
UMPS 2 1 83 25 22 0 0 133
ATRX 26 7 83 14 3 0 1 132
CP 55 4 54 13 5 0 0 124
FANCD2, LOC107303338 10 3 65 26 17 0 0 115
MMACHC 46 36 43 1 1 0 3 112
FANCA, ZNF276 6 21 65 18 4 0 0 111
CTC1 11 2 84 8 4 0 0 109
HBB, LOC106099062, LOC107133510 80 28 10 5 4 0 1 107
FANCG 19 3 71 8 3 0 0 103
MPL 22 9 36 34 4 0 0 97
FANCE 4 1 78 10 3 0 0 96
SLC4A1 25 4 40 28 2 0 1 95
FANCF 5 2 71 11 4 0 0 93
CFH 17 2 20 32 13 9 0 90
C3 0 3 30 34 17 4 0 87
CDAN1 11 3 51 12 13 0 0 86
TCN2 9 1 55 16 10 0 2 86
MTTP 12 3 43 23 12 0 0 83
TINF2 24 1 39 15 3 0 0 80
TERC 30 2 45 0 0 0 0 76
PCSK9 0 0 45 30 0 0 0 75
SARM1, SLC46A1 4 0 54 7 9 0 0 74
PALB2 15 0 31 23 3 0 1 73
FTCD 4 2 56 7 6 0 0 71
TMPRSS6 15 1 31 14 8 0 0 68
HPRT1 60 2 4 1 0 0 0 67
SEC23B 12 4 33 11 6 0 0 63
SLC11A2 5 1 45 2 10 0 0 62
DKC1 45 4 7 4 1 0 23 61
FANCB 22 2 29 5 3 0 0 61
CFI 1 4 18 23 6 6 0 57
ERCC4 8 1 39 5 4 0 0 56
SLC19A2 14 1 34 4 3 0 0 56
SRP72 2 0 19 20 14 0 0 55
THBD 0 0 20 24 9 3 0 55
PKLR 14 6 32 0 3 0 0 54
PFKM 11 2 29 5 9 0 1 53
BRCA1 28 0 20 0 2 0 0 50
CD46 6 2 27 6 2 6 0 48
FANCD2, FANCD2OS 1 1 32 4 8 0 0 46
RPS19 15 3 14 11 3 0 0 45
ANK1 13 2 12 1 17 0 0 44
TF 4 2 24 9 5 0 0 43
HBB, LOC107133510, LOC110006319 24 9 6 7 5 0 0 42
UROS 25 0 14 3 2 0 0 42
FANCL 8 4 23 5 0 0 0 40
TRNT1 10 0 26 1 3 0 1 40
PARN 13 1 24 2 0 0 0 39
SLC25A38 6 3 22 6 3 0 0 39
DIPK1A, RPL5 17 3 11 6 0 1 0 37
CBLIF 8 2 20 4 2 0 3 36
FANCL, VRK2 5 5 24 3 1 0 0 35
GSS 9 0 27 0 0 0 0 34
MTR 14 3 15 1 2 0 0 34
SPTA1 20 12 4 0 0 0 0 34
PUS1 4 2 20 4 2 0 0 31
ALDOA, LOC112694756 2 0 23 2 5 0 0 30
AMN 2 23 4 0 1 0 2 30
TPI1 8 0 14 5 3 0 0 30
ACD 2 1 25 0 2 0 0 29
CFB 1 0 16 11 0 2 0 29
YARS2 6 2 18 3 0 0 0 28
C2, CFB 0 0 0 22 5 0 0 27
KLF1 3 0 8 11 5 0 0 27
LOC110806263, TERT 3 0 22 2 0 0 0 27
RPL11 12 2 7 5 2 0 0 27
SPTB 19 8 1 1 0 0 0 27
FANCA, LOC112486223 10 7 8 3 0 0 0 26
FANCI, POLG 1 0 15 5 6 0 0 26
GATA1 17 2 6 0 1 0 0 26
MTRR 12 0 10 0 4 0 0 26
RPS10, RPS10-NUDT3 4 0 7 12 3 0 0 26
SLC46A1 13 0 11 1 0 0 0 24
NBN 3 1 19 0 0 0 0 23
RPS26 8 2 6 4 3 0 0 23
RPS7 2 1 11 7 2 0 0 23
DNM1L, YARS2 0 0 5 16 1 0 0 22
EPB42 9 0 10 0 4 0 0 22
LCAT 14 1 6 1 0 0 0 22
RPS24 7 0 5 9 1 0 0 22
DGKE 11 11 0 0 0 5 0 21
RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 19 0 1 0 0 20
ABCD4 5 0 12 1 2 0 0 19
HCFC1 6 0 11 2 0 0 0 19
LOC110806306, TERC 9 0 11 0 0 0 0 19
PGK1 14 1 5 0 0 0 0 19
ALAS2 16 0 1 0 1 0 0 18
DCLRE1B 0 0 18 0 0 0 0 18
IQCG, RPL35A 8 0 4 6 0 0 0 18
MMADHC 12 1 4 0 1 0 0 18
CP, HPS3 0 0 6 8 4 0 0 17
COL6A2, FTCD 0 0 4 9 3 0 0 16
LMBRD1 4 0 8 0 2 0 2 16
XRCC2 0 0 13 3 0 0 0 16
RHAG 13 0 1 0 1 0 0 15
RPL5 1 0 8 6 0 0 0 15
EPB41 6 1 3 0 3 0 1 14
HBA2, LOC106804612 12 1 1 0 0 0 0 14
NT5C3A 10 0 2 0 1 0 0 13
SLC2A1 6 2 5 0 0 0 0 13
STAT3 12 0 1 0 0 0 0 13
AK1 7 0 2 0 3 0 0 12
COX4I2 1 0 9 2 0 0 0 12
CYB5R3 12 0 0 0 0 0 0 12
FANCD2 3 2 5 2 0 0 0 12
IFNG 0 0 10 2 0 0 0 12
NHP2 0 0 12 0 0 0 0 12
GPI 8 2 1 0 1 0 0 11
PIGA 10 0 1 0 0 0 0 11
WRAP53 5 0 4 2 0 0 0 11
HBG2, LOC106099065 9 0 1 0 0 0 0 10
PIEZO1 8 1 0 0 0 0 0 8
XK 8 0 0 0 0 0 0 8
APOB, APOB3'MAR 0 0 5 2 0 0 0 7
BRIP1, LOC110120932 1 1 5 0 0 0 0 7
ABCB7 4 1 1 0 0 0 0 6
C15orf41 2 4 2 0 0 0 0 6
HCN3, PKLR 0 0 5 0 1 0 0 6
NHP2, RMND5B 3 0 3 0 0 0 0 6
PIGT 0 0 3 0 0 3 0 6
CD59 3 1 1 0 0 0 0 5
HBA1, LOC106804613 4 1 0 0 0 0 0 5
HBG1, LOC106099064 5 0 0 0 0 0 0 5
NOP10 2 0 3 0 0 0 0 5
AMMECR1 3 1 0 0 0 0 0 4
BRCA2, LOC106721785 0 0 1 2 1 0 0 4
CTC1, PFAS 0 0 4 0 0 0 0 4
ERCC6L2 2 0 2 0 0 0 0 4
FANCG, VCP 0 0 1 2 1 0 0 4
HBB 4 0 0 0 0 0 0 4
HBB, LOC106099062, LOC107133510, LOC110006319 1 2 1 0 0 0 0 4
HK1 3 1 0 0 0 0 0 4
LOC100289580, PIEZO1 2 0 2 0 0 0 0 4
POLR3A, RPS24 0 0 0 3 1 0 0 4
RPL26 1 0 3 0 0 0 0 4
RPS17 4 0 0 0 0 0 0 4
​intergenic 1 2 0 0 0 0 0 3
ABCB6 3 0 0 0 0 0 0 3
CYB5A 3 2 0 0 0 0 0 3
GLRX5 3 0 0 0 0 0 0 3
GSR 3 0 0 0 0 0 0 3
HBA1, HBA2, LOC106804612, LOC106804613 3 0 0 0 0 0 1 3
HBD, LOC109951029 0 0 3 0 0 0 0 3
HPRT1, LOC107032760 3 0 0 0 0 0 0 3
KCNN4 3 0 0 0 0 0 0 3
LOC110806263, LOC110806264, TERT 0 0 3 0 0 0 0 3
RPS29 2 0 1 0 0 0 0 3
TP53 3 0 0 0 0 0 0 3
WDR72 3 0 0 0 0 0 0 3
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 0 2
APOB, LOC106560211 0 0 1 1 0 0 0 2
ARFRP1, RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 2 0 0 0 0 2
BAAT 2 0 0 0 0 0 0 2
BPGM 2 0 0 0 0 0 0 2
DHFR 2 0 0 0 0 0 0 2
HBA1, HBA2 2 0 0 0 0 0 0 2
HBD 0 0 2 0 0 0 0 2
HBD, LOC106099063 0 0 2 0 0 0 0 2
HBG2 2 0 0 0 0 0 0 2
HSPA9 2 0 0 0 0 0 0 2
MMACHC, PRDX1 2 0 0 0 0 0 0 2
NKIRAS1, RPL15 1 0 1 0 0 0 0 2
PLEKHG3, SPTB 0 0 2 0 0 0 0 2
PRF1 2 0 0 0 0 0 0 2
RAD51 1 1 0 0 0 0 0 2
RFWD3 2 0 0 0 0 0 0 2
SBDS 2 0 0 0 0 0 0 2
SH2B3 1 0 1 0 0 0 0 2
UBE2T 2 0 0 0 0 0 0 2
ABCG4, ACRV1, ADAMTS15, ADAMTS8, APLP2, APOA1, APOA4, APOA5, APOC3, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, BACE1, BARX2, BCL9L, BLID, BSX, BUD13, C11orf45, C1QTNF5, C2CD2L, CADM1, CBL, CCDC15, CCDC153, CCDC84, CD3D, CD3E, CD3G, CDON, CEP164, CHEK1, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DSCAML1, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXR1, FOXRED1, FXYD2, FXYD6, FXYD6-FXYD2, GRAMD1B, GRIK4, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HYLS1, HYOU1, IFT46, IL10RA, JAML, JHY, KCNJ1, KCNJ5, KIRREL3, KMT2A, LINC02873, LOC101929473, MCAM, MFRP, MIR100, MIR125B1, MIRLET7A2, MPZL2, MPZL3, MSANTD2, NECTIN1, NFRKB, NLRX1, NRGN, NXPE2, NXPE4, OAF, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G2P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PDZD3, PHLDB1, PKNOX2, POU2F3, PRDM10, PUS3, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SIAE, SIDT2, SIK3, SLC37A2, SLC37A4, SNX19, SORL1, SPA17, SRPRA, ST14, ST3GAL4, STT3A, TAGLN, TBCEL, TBRG1, TECTA, THY1, TIRAP, TLCD5, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TP53AIP1, TRAPPC4, TREH, TRIM29, TTC36, UBASH3B, UBE4A, UPK2, USP2, VPS11, VSIG2, VWA5A, ZBTB44, ZNF202, ZPR1 0 1 0 0 0 0 0 1
ABCG8 0 0 1 0 0 0 0 1
ACADVL 0 0 1 0 0 0 0 1
ACTRT3, LOC110806306, TERC 1 0 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 0 1
ALAS2, PAGE2B 1 0 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, LOC106794092, LOC112533665, LOC116276454, 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
AMMECR1, RTL9 1 0 0 0 0 0 0 1
AMMECR1, TMEM164 0 0 1 0 0 0 0 1
AMN, TRAF3 1 0 0 0 0 0 0 1
ARHGAP4, ATP6AP1, AVPR2, DNASE1L1, EMD, FLNA, GDI1, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAZ, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 0 1
ARSA 0 0 1 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 1
ATP11C 1 1 0 0 0 0 0 1
BCL11A 0 1 0 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 0 0 1
C3AR1 0 1 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 0 1
CFH, CFHR1, CFHR3 1 0 0 0 0 0 0 1
CPT2 1 0 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 0 1
DIPK1A, RPL5, SNORA66 0 0 0 0 1 0 0 1
DNAJC21 1 0 0 0 0 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 0 1
FANCA, LOC112486223, ZNF276 1 0 0 0 0 0 0 1
FOXP3 1 0 0 0 0 0 0 1
G6PD 0 1 0 0 0 0 0 1
GATA2 0 0 1 0 0 0 0 1
GCLC 1 0 0 0 0 0 0 1
HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613 1 0 0 0 0 0 0 1
HBA1 1 0 0 0 0 0 0 1
HBA1, HBA2, HBM, HBQ1 1 0 0 0 0 0 0 1
HBA1, HBA2, HBM, HBZ, LOC106804612, LOC106804613 1 0 0 0 0 0 0 1
HBA1, HBA2, HBQ1, LOC106804612, LOC106804613 1 0 0 0 0 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 0 0 1
HBA2 1 0 0 0 0 0 0 1
HBB, HBD, LOC106099062, LOC106099063, LOC107133510, LOC110006319 1 0 0 0 0 0 0 1
HBG1 1 0 0 0 0 0 0 1
IKZF4, LOC116268441, RPS26 1 0 0 0 0 0 0 1
INPP4A 0 1 0 0 0 0 0 1
INSL6, JAK2 1 1 0 0 0 0 0 1
LOC106099062, LOC107133510 0 0 0 0 0 0 1 1
LOC110806306 1 0 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 1
MT-ATP6 1 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 0 1
NRAS 0 1 0 0 0 0 0 1
RPL18 1 0 0 0 0 0 0 1
RPL27 1 0 0 0 0 0 0 1
RPL35 1 0 0 0 0 0 0 1
RPS10 0 0 0 1 0 0 0 1
RPS15A 1 0 0 0 0 0 0 1
RPS27 1 0 0 0 0 0 0 1
RPS28 1 0 0 0 0 0 0 1
RUNX1 0 1 0 0 0 0 0 1
SLC29A1 1 0 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 1
SRC 0 1 0 0 0 0 0 1
STEAP3 1 0 0 0 0 0 0 1
TGM1, TINF2 1 0 0 1 0 0 0 1
TP53, WRAP53 0 0 0 0 1 0 0 1
TSR2 1 0 0 0 0 0 0 1
TTR 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 135
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 504 149 3414 268 84 1 0 4418
Illumina Clinical Services Laboratory,Illumina 18 13 2017 939 320 0 0 3307
OMIM 856 0 3 0 0 36 0 894
Counsyl 117 282 316 71 19 0 0 804
GeneReviews 325 0 0 0 11 0 0 336
Fulgent Genetics,Fulgent Genetics 85 13 220 1 3 0 0 322
Mendelics 29 25 146 63 33 0 0 295
Integrated Genetics/Laboratory Corporation of America 85 30 11 10 1 0 0 137
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 0 41 16 63 0 0 126
Baylor Genetics 92 17 3 0 0 0 0 112
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 23 24 33 0 0 0 0 80
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 0 49
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 1 44 0 0 0 0 49
Genetic Services Laboratory, University of Chicago 27 17 0 0 0 0 0 44
Genomic Research Center, Shahid Beheshti University of Medical Sciences 14 10 17 0 0 0 0 41
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 13 12 7 1 0 0 0 33
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 14 13 0 0 0 0 0 27
Molecular Diagnostics Laboratory, M Health: University of Minnesota 12 15 0 0 0 0 0 27
NIHR Bioresource Rare Diseases, University of Cambridge 1 24 0 0 0 0 0 25
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 2 10 13 0 0 25
UniProtKB/Swiss-Prot 0 0 0 0 0 0 22 22
Leiden Open Variation Database 18 0 3 0 0 0 0 21
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 6 10 0 0 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 3 9 3 0 0 15
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 6 5 3 0 1 0 0 15
GenomeConnect, ClinGen 0 0 0 0 0 0 13 13
Johns Hopkins Genomics,Johns Hopkins University 0 3 3 7 0 0 0 13
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 8 0 1 0 0 11
Degerman lab,Umeå University 8 2 1 0 0 0 0 11
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 0 10 10
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 1 0 0 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 0 3 0 0 0 0 10
SIB Swiss Institute of Bioinformatics 0 7 2 0 1 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 8 1 0 0 0 0 0 9
Richard Lifton Laboratory, Yale University School of Medicine 0 7 0 0 0 0 0 7
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 7 7
Division of Human Genetics,Children's Hospital of Philadelphia 3 2 2 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 1 0 0 0 0 7
Knight Diagnostic Laboratories,Oregon Health and Sciences University 4 3 0 0 0 0 0 7
Broad Institute Rare Disease Group,Broad Institute 0 2 5 0 0 0 0 7
Natera Inc 3 1 2 0 1 0 0 7
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 6 0 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 5 1 0 0 0 0 0 6
PALB2 database 4 0 2 0 0 0 0 6
University of Washington Center for Mendelian Genomics,University of Washington 6 0 0 0 0 0 0 6
Dept of Medicine and Surgery, University of Milano-Bicocca 5 1 0 0 0 0 0 6
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 5 0 1 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 1 0 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 5 0 0 0 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 0 5
College of Science, Al Muthanna University,Al Muthanna University 1 0 0 0 4 0 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 0 0 0 0 0 0 4
Department of Hematology,University of Health Sciences 0 2 0 2 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 0 0 0 0 0 4
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 0 0 4
Genetics Division,Universidade Federal de Sao Paulo 3 1 0 0 0 0 0 4
Reproductive Health Research and Development,BGI Genomics 4 0 0 0 0 0 0 4
Center for Human Genetics, Inc 2 0 1 0 0 0 0 3
MVZ Dortmund,Dr. Eberhard & Partner 2 1 0 0 0 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 2 0 0 0 1 3
UCLA Clinical Genomics Center, UCLA 1 2 0 0 0 0 0 3
Bone Marrow Failure laboratory,Queen Mary University London 3 0 0 0 0 0 0 3
GenePathDx,Causeway Health Care Private Ltd 0 2 0 1 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 1 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 3 0 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 1 1 0 0 3
Division of Molecular Medicine,Faculty of Medicine Siriraj Hospital, Mahidol University 3 0 0 0 0 0 0 3
Stem Cell Engineering Center,Hunan Guangxiu Hospital 3 0 0 0 0 0 0 3
Unidade de Eritropatologia e Metabolismo do Ferro,Centro Hospitalar e Universitário de Coimbra 3 0 0 0 0 0 0 3
Medical Genetics Institute,Shaare Zedek Medical Center 2 0 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 0 2
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 0 0 0 0 0 0 2 2
Department of Medical Genetics,Oslo University Hospital 2 0 0 0 0 0 0 2
Center for Individualized Medicine,Mayo Clinic 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 0 0 2 0 2
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 2 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 2 0 0 0 0 0 0 2
Hemoglobin and Genome Lab,University of Campinas 0 2 0 0 0 0 0 2
Department of Hematology - Research Laboratory 1,Postgraduate Institute of Medical Education and Research 1 0 1 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 0 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 0 0 2
Department of Pediatrics,Hirosaki University Graduate School of Medicine 2 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 1 1 0 0 0 0 0 2
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 0 2 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 0 2
Bertuch Lab,Baylor College of Medicine 2 0 0 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 0 0 0 0 0 2
Laboratory of genome diagnostics,Academic Medical Center, University of Amsterdam 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
Pediatric Molecular Hematology,Schneider Children's Medical Center of Israel 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 0 1
Medical Biology Lab, Gaziantep University 0 0 0 0 0 0 1 1
Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm 1 0 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 0 1
Molecular Genetic Center,Genetaq 0 1 0 0 0 0 0 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 1
Center for Genomic Medicine,University of Copenhagen 0 1 0 0 0 0 0 1
Sankaran Lab,Boston Children's Hospital 1 0 0 0 0 0 0 1
Australian Red Cross Blood Service 1 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
Research Group Niklas Dahl,Uppsala University 0 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 1 0 0 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 0 1
Bodamer Research Lab,Boston Children's Hospital 0 0 1 0 0 0 0 1
Department of Laboratory Medicine, Kangbuk Samsung Hospital,Sungkyunkwan University School of Medicine 1 0 0 0 0 0 0 1
Department of Hematology,303rd Hospital of the People's Liberation Army 1 0 0 0 0 0 0 1
Hb Lab, Kinderklinik Ulm,University Hospital Ulm 1 0 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 1
Genetic Services Unit,National Institute of Biomedical Genomics 1 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 1
Palladino Lab,Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 0 1
Diagnostica di Laboratorio,Fondazione Policlinico Gemelli 0 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies 0 0 0 0 0 0 1 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 0 1
Biochemistry Laboratory,Bechir Hamza Children's Hospital 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences,Imam Abdulrahman Bin Faisal University 0 0 0 0 0 1 0 1

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