ClinVar Miner

Variants studied for anemia (disease)

Included ClinVar conditions (273):
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 association risk factor not provided total
3191 996 10329 3546 2039 1 39 37 19022

Gene and significance breakdown #

Total genes and gene combinations: 269
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
BRIP1 240 106 1518 414 51 0 0 0 2253
FANCA 521 174 719 349 65 0 0 0 1674
FANCM 59 11 612 154 31 0 0 0 865
SLX4 34 8 579 161 84 0 0 0 827
RAD51C 98 55 539 143 8 0 0 0 822
CUBN 28 45 347 78 115 0 0 2 567
ATRX 37 11 224 195 83 0 0 1 532
FANCI 39 10 337 89 40 0 0 0 484
AOPEP, FANCC 44 49 250 102 23 0 0 0 429
LPIN2 15 5 262 78 49 0 0 8 379
FANCA, ZNF276 75 27 139 72 21 0 0 0 301
FANCD2, LOC107303338 35 7 172 71 39 0 0 0 295
FANCG 63 13 137 95 8 0 0 0 294
BRCA2 40 1 150 68 28 0 0 1 285
FANCC 58 37 138 70 7 0 0 0 282
ANK1 21 3 169 37 52 0 0 0 274
SPTA1 29 12 191 66 46 0 0 0 270
HBB, LOC106099062, LOC107133510 211 30 23 6 11 0 0 1 249
MPL 43 29 78 86 18 0 0 0 225
FANCE 16 7 150 33 17 0 0 0 207
MTRR 31 8 42 94 29 0 0 0 198
ERCC4 12 4 132 38 16 0 0 0 196
CP 58 5 98 28 26 0 0 0 195
MMACHC 66 43 63 45 5 0 0 3 195
TCN2 14 4 117 42 35 0 0 2 195
UMPS 2 1 114 20 49 0 0 0 186
FANCF 14 1 124 28 24 0 0 0 183
FANCB 22 2 86 34 44 0 0 0 181
PFKM 17 11 59 80 21 0 0 1 172
CDAN1 11 3 114 17 23 0 0 0 165
TRNT1 27 4 104 24 10 0 0 1 165
MTTP 14 24 77 23 38 0 0 0 162
SLC4A1 25 5 87 20 29 0 0 1 158
ACD 2 1 109 27 10 0 0 0 147
C3 3 3 55 19 67 0 4 0 147
CFH 22 3 39 14 46 0 9 0 128
TMPRSS6 17 2 60 9 32 0 0 0 118
FANCD2, FANCD2OS 10 2 83 16 11 0 0 0 116
MTR 20 4 56 18 20 0 0 0 115
PALB2 19 0 70 17 7 0 0 2 114
HCFC1 6 0 48 31 29 0 0 0 113
SEC23B 13 5 59 21 22 0 0 0 110
SARM1, SLC46A1 4 0 72 9 23 0 0 0 108
FANCL 13 6 67 18 6 0 0 0 105
G6PD 44 9 28 29 9 0 0 0 105
TERT 21 5 51 17 36 0 0 2 98
SLC11A2 5 1 61 5 22 0 0 0 93
MMADHC 18 5 34 27 15 0 0 0 91
HBB, LOC107133510, LOC110006319 61 11 12 7 16 0 0 0 90
THBD 1 0 40 6 38 0 3 0 86
CD46 8 3 51 6 11 0 6 0 82
SLC19A2 14 1 53 1 12 0 0 0 81
PKLR 15 6 54 4 4 0 0 0 80
ABCD4 6 2 39 21 12 0 0 0 78
FTCD 9 2 40 19 12 0 0 0 78
CFI 2 5 32 10 26 0 6 0 77
HPRT1 64 6 6 1 0 0 0 0 76
PUS1 4 2 47 18 13 0 0 0 75
SRP72 2 0 34 3 34 0 0 0 73
DIPK1A, RPL5 23 5 29 8 10 1 1 0 72
LMBRD1 6 0 44 13 10 0 0 2 72
RPS19 23 3 24 12 11 0 0 0 71
AMN 11 23 15 15 11 0 0 2 70
GATA1 25 3 22 7 13 0 0 0 69
FANCL, VRK2 6 8 42 10 7 0 0 0 68
GSS 11 2 45 8 4 0 0 0 65
TF 4 2 35 10 15 0 0 0 65
SLC25A38 6 3 41 11 9 0 0 0 62
CBLIF 6 2 37 12 9 0 0 3 61
EPB42 10 0 46 3 7 0 0 0 60
UROS 25 0 19 5 6 0 0 0 53
BRCA1 29 1 20 0 2 0 0 0 52
RPL11 17 2 15 10 6 0 0 0 50
RPS24 8 0 15 16 12 0 0 0 50
TPI1 8 0 26 6 11 0 0 0 50
APOB 21 0 26 1 0 0 0 0 48
FANCA, LOC112486223 19 7 17 5 3 0 0 0 46
RPS7 4 1 23 12 7 0 0 0 46
CFB 1 0 24 8 11 0 2 0 44
ALDOA, LOC112694756 2 0 34 5 5 0 0 0 43
RPS10, RPS10-NUDT3 5 1 17 8 14 0 0 0 43
ALAS2 14 1 10 3 13 0 0 0 40
HBA2, LOC106804612 20 4 8 1 8 0 0 1 40
RPS26 13 2 9 9 7 0 0 0 39
SLC46A1 13 0 20 4 2 0 0 0 39
SPTB 19 9 12 1 0 0 0 0 39
FANCI, POLG 3 1 21 7 10 0 0 0 38
LCAT 14 1 20 1 2 0 0 0 38
YARS2 6 2 23 4 5 0 0 0 37
IQCG, RPL35A 9 1 15 5 5 0 0 0 33
KLF1 2 0 14 1 15 0 0 0 32
PCSK9 0 0 29 3 0 0 0 0 32
FANCD2 11 4 11 1 2 0 0 0 29
C2, CFB 0 0 0 16 13 0 0 0 28
NBN 3 1 24 0 0 0 0 0 28
DGKE 12 13 2 0 0 0 5 0 26
CP, HPS3 0 0 12 9 6 0 0 0 25
HBA1, LOC106804613 10 2 5 1 6 0 0 0 24
DNM1L, YARS2 0 0 5 17 7 0 0 0 22
TERC 20 1 0 0 0 0 0 0 21
GPI 8 2 6 0 5 0 0 0 20
PGK1 14 1 5 1 0 0 0 0 20
RPL5 2 0 6 4 9 0 0 0 20
STAT3 13 3 4 0 0 0 0 0 20
IFNG 0 0 15 2 2 0 0 0 19
OR10Z1, SPTA1 0 0 16 2 3 0 0 0 19
XRCC2 0 1 15 3 0 0 0 0 19
ABCB7 4 1 9 0 4 0 0 0 18
EPB41 6 1 4 0 6 0 0 1 17
NT5C3A 10 0 2 0 5 0 0 0 17
COL6A2, FTCD 0 0 4 9 3 0 0 0 16
HBB, LOC106099062, LOC107133510, LOC110006319 15 3 1 0 0 0 0 0 16
PIEZO1 8 2 5 0 1 0 0 0 15
RHAG 13 0 1 0 1 0 0 1 15
SLC2A1 9 2 5 0 0 0 0 0 15
PIGA 10 3 1 0 0 0 0 0 14
AK1 7 0 2 0 4 0 0 0 13
CYB5R3 12 1 0 0 0 0 0 0 13
GSR 3 0 3 0 7 0 0 0 13
RPL26 1 0 6 4 1 0 0 0 12
​intergenic 10 1 0 0 0 0 0 0 11
HBG2, LOC106099065 9 0 1 0 0 0 0 0 10
HCN3, PKLR 0 0 9 0 1 0 0 0 10
PRF1 4 0 6 0 0 0 0 0 10
LOC100289580, PIEZO1 2 1 6 0 0 0 0 0 9
ERCC6L2 2 1 5 0 0 0 0 0 8
HBB 8 0 0 0 0 0 0 0 8
XK 8 0 0 0 0 0 0 0 8
BRIP1, LOC110120932 1 1 5 0 0 0 0 0 7
FANCG, VCP 1 0 3 3 6 0 0 0 7
GLRX5 5 0 2 0 0 0 0 0 7
HK1 3 1 3 0 0 0 0 0 7
PIGT 0 0 4 0 0 0 3 0 7
BRCA2, LOC106721785 0 0 3 2 1 0 0 0 6
CDIN1 2 4 2 0 0 0 0 0 6
DHFR, MSH3 0 0 0 0 6 0 0 0 6
HBD 0 0 6 0 0 0 0 0 6
LOC110806263, TERT 2 0 3 1 0 0 0 0 6
RPS10 0 1 1 3 1 0 0 0 6
AMMECR1 3 2 0 0 0 0 0 0 5
CD59 3 0 2 0 0 0 0 0 5
G6PD, IKBKG 2 0 2 1 1 0 0 0 5
HBA1, HBA2, HBQ1, LOC106804612, LOC106804613 5 0 0 0 0 0 0 0 5
HBD, LOC106099063 0 0 4 1 0 0 0 0 5
HBG1, LOC106099064 5 0 0 0 0 0 0 0 5
HPRT1, LOC107032760 4 1 0 0 0 0 0 0 5
UBE2T 5 0 0 0 0 0 0 0 5
BPGM 4 0 0 0 0 0 0 0 4
COX4I2 1 0 2 1 0 0 0 0 4
HBA1, HBA2, HBZ 4 0 0 0 0 0 0 0 4
HBA1, HBA2, LOC106804612, LOC106804613 4 0 0 0 0 0 0 1 4
KCNN4 4 0 0 0 0 0 0 0 4
MMADHC, MMADHC-DT 0 0 3 1 0 0 0 0 4
NKIRAS1, RPL15 1 1 2 0 0 0 0 0 4
POLR3A, RPS24 0 0 0 3 2 0 0 0 4
RPS17 4 0 0 0 0 0 0 0 4
ABCB6 3 0 0 0 0 0 0 0 3
ADAMTS13 0 1 2 0 0 0 0 0 3
ALAS2, LOC108663984 0 0 1 0 2 0 0 0 3
CYB5A 3 2 0 0 0 0 0 0 3
HBA1, HBA2 3 0 0 0 0 0 0 0 3
HBD, LOC109951029 0 0 3 0 0 0 0 0 3
KLF1, LOC117125591 1 0 0 0 2 0 0 0 3
LOC110806306, TERC 2 0 1 0 0 0 0 0 3
RAD51 2 1 0 0 0 0 0 0 3
RFWD3 2 0 1 0 0 0 0 0 3
RPS29 2 1 1 0 0 0 0 0 3
TP53 3 0 0 0 0 0 0 0 3
WDR72 3 0 0 0 0 0 0 0 3
ALAS2, LOC108663984, PAGE2B 0 0 1 1 0 0 0 0 2
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 0 0 2
APOB, APOB3'MAR 0 0 2 0 0 0 0 0 2
BAAT 2 0 0 0 0 0 0 0 2
CFHR5 1 0 1 0 0 0 0 0 2
DHFR 2 0 0 0 0 0 0 0 2
GCLC 1 0 1 0 0 0 0 0 2
HBA2 1 0 0 0 1 0 0 0 2
HBG2 2 0 0 0 0 0 0 0 2
HSPA9 2 0 0 0 0 0 0 0 2
KLF1, LOC117125592 0 0 0 1 1 0 0 0 2
MMACHC, PRDX1 2 0 0 0 0 0 0 0 2
PLEKHG3, SPTB 0 0 2 0 0 0 0 0 2
RPS20 2 0 0 0 0 0 0 0 2
SBDS 2 0 0 0 0 0 0 0 2
SH2B3 1 0 1 0 0 0 0 0 2
SMARCAL1 0 1 1 0 0 0 0 0 2
SOCS1 0 2 0 0 0 0 0 0 2
TSR2 1 0 0 1 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, CD3D, CD3E, CD3G, CDON, CENATAC, 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, 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 0 1
ABCG8 0 0 1 0 0 0 0 0 1
ACADVL 0 0 1 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 0 1
ALAS2, APEX2 0 0 0 0 1 0 0 0 1
ALAS2, PAGE2B 1 0 0 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 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, 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 0 1
AMMECR1, RTL9 1 0 0 0 0 0 0 0 1
AMMECR1, TMEM164 0 0 1 0 0 0 0 0 1
AMN, TRAF3 1 0 0 0 0 0 0 0 1
ARHGAP4, ATP6AP1, AVPR2, DNASE1L1, EMD, FLNA, GDI1, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 0 0 1
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 0 0 1 0 0 0 0 0 1
ARHGEF15, KRBA2, ODF4, RANGRF, RPL26, SLC25A35 0 0 1 0 0 0 0 0 1
ARSA 0 0 1 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 0 1
ATP11C 1 1 0 0 0 0 0 0 1
BCL11A 0 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 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 0 0 0 1
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14 0 0 1 0 0 0 0 0 1
C3AR1 0 1 0 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 0 1
CASK 1 0 0 0 0 0 0 0 1
CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6 1 0 0 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 0 0 1
CFH, CFHR1, CFHR3 1 0 0 0 0 0 0 0 1
CFHR1 0 0 1 0 0 0 0 0 1
COL4A5 1 0 0 0 0 0 0 0 1
CPT2 1 0 0 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 0 0 1
DDX41 0 0 1 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
DNAJC21 1 0 0 0 0 0 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 0 0 1
FANCA, LOC112486223, ZNF276 1 0 0 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 0 0 0 1
FOXP3 1 0 0 0 0 0 0 0 1
GATA1, GLOD5, SUV39H1, WAS 0 0 1 0 0 0 0 0 1
GATA1, LOC119407405 0 0 0 1 0 0 0 0 1
GATA2 0 0 1 0 0 0 0 0 1
HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613 1 0 0 0 0 0 0 0 1
HBA1 1 0 0 0 0 0 0 0 1
HBA1, HBA2, HBM, HBQ1 1 0 0 0 0 0 0 0 1
HBA1, HBA2, HBM, HBZ, LOC106804612, LOC106804613 1 0 0 0 0 0 0 0 1
HBA1, HBA2, HBM, LOC106804612, LOC106804613 1 0 0 0 0 0 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 0 0 0 1
HBB, HBB-LCR 1 0 0 0 0 0 0 0 1
HBB, HBD, LOC106099062, LOC106099063, LOC107133510, LOC110006319 1 0 0 0 0 0 0 0 1
HBG1 1 0 0 0 0 0 0 0 1
IKZF4, LOC116268441, RPS26 1 0 0 0 0 0 0 0 1
INSL6, JAK2 1 1 0 0 0 0 0 0 1
LOC106099062, LOC107133510 0 0 0 0 0 0 0 1 1
LOC110806306 1 0 0 0 0 0 0 0 1
LOC112486220 1 0 0 0 0 0 0 0 1
LOC120893165, SLC19A2 0 0 1 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 0 1
MIR6797, RPS19 0 0 1 0 0 0 0 0 1
MT-ATP6 1 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8 0 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 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 0 1
NRAS 0 1 0 0 0 0 0 0 1
PLG 0 0 1 0 0 0 0 0 1
POLR1C, SLC29A1 1 0 0 0 0 0 0 0 1
RPL18 1 0 0 0 0 0 0 0 1
RPL27 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
RPS27 1 0 0 0 0 0 0 0 1
RPS28 1 0 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 0 0 1
RUNX1 0 1 0 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 1
SRC 0 1 0 0 0 0 0 0 1
STEAP3 1 0 0 0 0 0 0 0 1
TINF2 1 0 0 0 0 0 0 0 1
TTR 1 0 0 0 0 0 0 0 1
YARS1 0 0 1 0 0 0 0 0 1
ZNF699 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 177
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 1202 336 6086 2628 824 0 0 0 11075
Illumina Clinical Services Laboratory,Illumina 17 14 3506 784 1294 0 0 0 5492
OMIM 831 0 3 0 0 0 36 0 869
Leiden Open Variation Database 617 8 114 1 0 0 0 0 740
Counsyl 94 244 256 66 18 0 0 0 677
Natera, Inc. 46 14 328 98 126 0 0 0 612
Baylor Genetics 131 26 264 0 0 0 0 0 421
Fulgent Genetics,Fulgent Genetics 92 12 219 1 3 0 0 0 327
Mendelics 36 24 150 63 31 0 0 0 304
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 262 0 0 0 26 0 0 0 288
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 14 0 85 23 134 0 0 0 256
GeneReviews 232 0 0 0 6 0 0 0 238
Integrated Genetics/Laboratory Corporation of America 120 33 4 5 1 0 0 0 163
Myriad Women's Health, Inc. 28 70 0 0 0 0 0 0 98
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 26 24 33 0 0 0 0 0 83
Centre for Mendelian Genomics,University Medical Centre Ljubljana 20 6 24 0 2 0 0 0 52
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 0 0 49
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 1 43 0 0 0 0 0 48
Genomic Research Center, Shahid Beheshti University of Medical Sciences 17 5 20 1 0 0 0 0 43
Sydney Genome Diagnostics,Children's Hospital Westmead 13 6 23 0 0 0 1 0 43
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 13 12 7 1 0 0 0 0 33
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 17 12 0 0 0 0 0 0 29
Genetic Services Laboratory, University of Chicago 20 7 0 0 0 0 0 0 27
Institute of Human Genetics, University of Leipzig Medical Center 11 2 10 3 1 0 0 0 27
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 12 14 0 0 0 0 0 0 26
NIHR Bioresource Rare Diseases, University of Cambridge 1 24 0 0 0 0 0 0 25
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 9 13 0 0 0 24
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 11 7 3 0 1 0 0 0 22
Johns Hopkins Genomics, Johns Hopkins University 2 5 10 1 0 0 0 0 18
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 6 10 0 0 0 17
Knight Diagnostic Laboratories, Oregon Health and Sciences University 9 6 1 0 0 0 0 0 16
GenomeConnect, ClinGen 0 0 0 0 0 0 0 16 16
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 3 9 3 0 0 0 15
Broad Institute Rare Disease Group, Broad Institute 1 2 6 1 5 0 0 0 15
Institute of Human Genetics, Klinikum rechts der Isar 9 4 0 0 0 0 0 0 13
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 11 1 0 0 0 0 0 0 12
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 1 3 7 0 0 0 0 0 11
Elsea Laboratory,Baylor College of Medicine 4 1 4 1 0 0 0 0 10
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 0 0 10 10
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 1 0 0 0 0 0 0 10
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 7 0 1 0 0 0 10
SIB Swiss Institute of Bioinformatics 0 7 2 0 1 0 0 0 10
Division of Human Genetics,Children's Hospital of Philadelphia 6 1 2 0 0 0 0 0 9
Department of Pathology and Laboratory Medicine,Sinai Health System 1 1 5 2 0 0 0 0 9
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 4 5 0 0 0 0 0 9
Nilou-Genome Lab 2 0 2 2 3 0 0 0 9
LifeCell International Pvt. Ltd 8 1 0 0 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 2 0 0 0 0 0 8
Dept of Medicine and Surgery, University of Milano-Bicocca 7 1 0 0 0 0 0 0 8
Degerman lab,Umeå University 5 2 1 0 0 0 0 0 8
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 3 5 0 0 0 0 0 0 8
Centogene AG - the Rare Disease Company 6 1 0 0 0 0 0 0 7
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 2 3 0 0 0 0 0 7
Richard Lifton Laboratory, Yale University School of Medicine 0 7 0 0 0 0 0 0 7
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 7 7
Neurology Department,Peking University First Hospital 6 0 1 0 0 0 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 6 0 0 0 0 0 0 0 6
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 5 0 1 0 0 0 0 0 6
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 3 2 1 0 0 0 0 0 6
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases,The First People’s Hospital of Yunnan Province 2 0 0 0 4 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 1 0 0 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 5 0 0 0 0 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 0 0 5
College of Science, Al Muthanna University,Al Muthanna University 1 0 0 0 4 0 0 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 0 0 0 0 0 0 0 4
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 2 0 1 0 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 0 0 0 0 0 0 0 4
MVZ Dr. Eberhard & Partner Dortmund 3 1 0 0 0 0 0 0 4
Department of Hematology,University of Health Sciences 0 2 0 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 2 0 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 0 0 0 0 0 0 4
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 0 0 0 4
Genetics Division,Universidade Federal de Sao Paulo 3 1 0 0 0 0 0 0 4
Reproductive Health Research and Development,BGI Genomics 4 0 0 0 0 0 0 0 4
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 2 1 0 0 0 0 4
New York Genome Center 1 0 3 0 0 0 0 0 4
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 2 2 0 0 0 0 0 0 4
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 0 1 0 0 0 0 0 3
Institute of Human Genetics,Cologne University 1 0 2 0 0 0 0 0 3
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 3 0 0 0 0 0 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 2 0 0 0 0 1 3
UCLA Clinical Genomics Center, UCLA 1 2 0 0 0 0 0 0 3
Department of Medical Genetics, Oslo University Hospital 3 0 0 0 0 0 0 0 3
GenePathDx,Causeway Health Care Private Ltd 0 2 0 1 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 1 0 0 0 0 0 0 3
Daryl Scott Lab,Baylor College of Medicine 3 0 0 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 3 0 0 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 1 1 0 0 0 3
Division of Molecular Medicine,Faculty of Medicine Siriraj Hospital, Mahidol University 3 0 0 0 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 2 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 0 3
Pars Genome Lab 0 0 3 0 0 0 0 0 3
Medical Genetics Institute,Shaare Zedek Medical Center 2 0 0 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 0 0 2
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 0 0 0 0 0 0 0 2 2
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences 1 1 0 0 0 0 0 0 2
Center for Individualized Medicine,Mayo Clinic 0 2 0 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 0 0 0 2 0 2
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 2 0 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 2 0 0 0 0 0 0 0 2
Hemoglobin and Genome Lab,University of Campinas 0 2 0 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 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 0 0 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 0 0 0 2
Department of Pediatrics,Hirosaki University Graduate School of Medicine 2 0 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 1 1 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
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 0 2 0 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 0 0 2
Bertuch Lab,Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 0 0 0 0 0 0 2
Clinical Genomics Program, Stanford 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
Immunogenetics of Pediatric Autoimmune Diseases,Institut Imagine 0 2 0 0 0 0 0 0 2
UOS Fisiopatologia delle Anemie,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 1 0 0 0 0 0 0 2
King Laboratory,University of Washington 1 0 0 0 0 0 0 0 1
Laboratory of genome diagnostics,Academic Medical Center, University of Amsterdam 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 1 0 0 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 0 1
Pediatric Molecular Hematology,Schneider Children's Medical Center of Israel 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 0 0 1
Medical Biology Lab, Gaziantep University 0 0 0 0 0 0 0 1 1
Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm 1 0 0 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Bone Marrow Failure laboratory,Queen Mary University London 0 0 1 0 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 0 0 1
Molecular Genetic Center,Genetaq 0 1 0 0 0 0 0 0 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 0 1
Center for Genomic Medicine,University of Copenhagen 0 1 0 0 0 0 0 0 1
Sankaran Lab,Boston Children's Hospital 1 0 0 0 0 0 0 0 1
Australian Red Cross Blood Service 1 0 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Research Group Niklas Dahl,Uppsala University 0 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 0 0 1
Bodamer Research Lab,Boston Children's Hospital 0 0 1 0 0 0 0 0 1
Department of Laboratory Medicine, Kangbuk Samsung Hospital,Sungkyunkwan University School of Medicine 1 0 0 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 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 0 1
Hb Lab, Kinderklinik Ulm,University Hospital Ulm 1 0 0 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 0 1
Genetic Services Unit,National Institute of Biomedical Genomics 1 0 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing),Coyote 0 0 1 0 0 0 0 0 1
Palladino Lab,Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 0 0 1
Diagnostica di Laboratorio,Fondazione Policlinico Gemelli 0 1 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 0 0 1
Biochemistry Laboratory,Bechir Hamza Children's Hospital 0 1 0 0 0 0 0 0 1
Godley laboratory, The University of Chicago 0 1 0 0 0 0 0 0 1
International Fanconi Anemia Registry,The Rockefeller University 0 1 0 0 0 0 0 0 1
Gastroenterology Department,Qilu Hospital of Shandong University 0 0 1 0 0 0 0 0 1
Shieh Lab,University of California, San Francisco 0 0 1 0 0 0 0 0 1
Center for Human Genetics,University Hospitals Cleveland Medical Center 0 0 1 0 0 0 0 0 1
Molecular Pathology Laboratory,Viapath at King's College Hospital 1 0 0 0 0 0 0 0 1

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