ClinVar Miner

Variants studied for blood coagulation disease

Included ClinVar conditions (153):
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 affects association established risk allele pathogenic, low penetrance protective risk factor not provided total
2345 1965 6561 3512 1294 3 1 1 2 1 36 61 14345

Gene and significance breakdown #

Total genes and gene combinations: 192
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association established risk allele pathogenic, low penetrance protective risk factor not provided total
RUNX1 142 107 927 511 122 0 0 0 0 0 0 3 1551
F5 65 42 253 584 99 0 0 1 1 0 1 3 912
AP3B1 38 33 390 303 45 0 0 0 0 0 0 1 766
VWF 232 189 330 63 67 0 0 0 0 0 1 19 753
ITGA2B 162 113 328 187 31 0 0 0 0 0 0 0 736
F8 405 193 121 29 28 0 0 0 0 0 0 1 711
WAS 115 34 172 255 53 0 0 0 0 0 0 1 605
F9 180 82 63 201 45 0 1 0 0 0 0 3 514
PROS1 73 63 213 153 25 0 0 0 0 0 1 1 482
HPS1 37 95 224 48 46 0 0 0 0 0 0 4 419
ADAMTS13 40 45 293 37 15 0 0 0 0 0 0 0 414
C3 4 17 264 76 70 0 0 0 0 0 4 0 408
PROC 64 63 152 110 21 0 0 0 0 0 0 0 356
SERPINC1 101 71 125 101 17 0 0 0 0 0 0 0 355
CFH 21 32 208 54 56 0 0 0 0 0 9 3 346
F2 25 16 66 236 20 0 0 0 1 0 1 5 331
WIPF1 5 0 133 134 14 0 0 0 0 0 0 0 284
F11 52 117 122 11 19 0 0 0 0 0 0 1 277
ITGB3 88 66 78 19 19 0 0 0 0 0 0 0 229
HPS4 16 52 123 18 23 0 0 0 0 0 0 1 219
HPS3 21 111 65 13 20 0 0 0 0 0 0 1 218
CFI 8 29 123 32 27 0 0 0 0 0 6 1 203
THBD 6 5 138 11 38 0 0 0 0 0 3 0 191
F7 37 54 101 8 6 0 0 0 0 0 0 3 186
GGCX 4 5 127 16 29 0 0 0 0 0 0 1 182
BLOC1S6 19 11 62 80 8 0 0 0 0 0 0 1 174
PLG 10 7 118 7 9 0 0 0 0 0 0 0 149
HPS5 23 18 83 12 19 0 0 0 0 0 0 0 147
FGA 17 17 97 8 6 0 0 0 0 0 1 0 142
CD36 19 31 90 2 4 0 0 0 0 0 0 0 130
F13A1 28 13 68 7 17 0 0 0 0 1 0 0 128
MCFD2 8 3 75 6 25 0 0 0 0 0 0 0 115
CP, HPS3 13 36 46 12 15 0 0 0 0 0 0 0 112
FGB 10 2 67 5 21 0 0 0 0 0 0 0 103
HPS6 16 30 45 3 8 0 0 0 0 0 0 1 99
LMAN1 6 3 69 7 14 0 0 0 0 0 0 0 99
CD46 14 10 56 8 10 0 0 0 0 0 6 0 97
F10 19 25 45 3 7 0 0 0 0 0 0 0 93
PIGM 2 1 61 10 9 0 0 0 0 0 0 0 82
SERPINE1 2 0 53 9 14 0 0 0 0 0 0 3 79
EFCAB13-DT, ITGB3 5 5 43 7 11 0 0 0 0 0 0 0 67
F13B 8 2 49 2 4 0 0 0 0 0 0 0 64
FGG 15 10 27 3 4 0 0 0 0 0 0 0 56
CFB 1 0 30 11 13 0 0 0 0 0 2 0 52
F12 6 4 31 6 6 0 0 0 0 0 0 0 50
MTHFR 5 16 10 4 0 0 0 0 0 0 0 0 35
GP1BA 8 15 5 0 2 0 0 0 0 0 0 1 30
WRN 0 0 0 6 23 0 0 0 0 0 0 0 29
C2, CFB 0 0 1 17 15 0 0 0 0 0 0 0 26
ETV6 6 7 10 1 1 0 0 0 0 0 0 0 23
VKORC1 1 0 13 4 5 0 0 0 0 0 0 0 23
HPS6, LOC130004578 5 9 9 1 1 0 0 0 0 0 0 0 21
RASGRP2 5 8 3 0 5 0 0 0 0 0 0 0 19
AP3D1 1 3 12 2 0 0 0 0 0 0 0 0 18
DTNBP1 3 3 10 3 0 0 0 0 0 0 0 0 18
KLKB1 9 4 2 2 2 0 0 0 0 0 0 0 18
CFHR5 1 0 5 8 2 0 0 0 0 0 0 0 16
DGKE 5 9 3 0 0 0 0 0 0 0 0 0 16
ITGA2B, LOC130060983 6 3 5 4 1 0 0 0 0 0 0 0 15
BLOC1S3 6 0 6 1 1 0 0 0 0 0 0 0 14
F12, SLC34A1 0 0 0 10 3 0 0 0 0 0 0 0 13
F10, F7 0 0 0 10 2 0 0 0 0 0 0 0 12
HPS5, LOC126861152 0 0 8 0 4 0 0 0 0 0 0 0 12
ANO6 7 1 2 0 0 0 0 0 0 0 0 0 10
HRG 1 0 6 0 3 0 0 0 0 0 0 0 10
PI4KA, SERPIND1 4 0 6 0 1 0 0 0 0 0 0 0 10
ADAMTS13, LOC130002910 2 0 6 1 0 0 0 0 0 0 0 0 9
CFHR3 0 0 3 3 3 0 0 0 0 0 0 0 9
ETV6, LOC126861452 1 1 7 0 0 0 0 0 0 0 0 0 9
KNG1 5 0 1 0 0 3 0 0 0 0 0 0 9
MED12L, P2RY12 4 3 1 0 1 0 0 0 0 0 0 0 9
GGCX, MAT2A 0 0 6 1 1 0 0 0 0 0 0 0 8
LOC129933675, MCFD2 0 0 7 0 1 0 0 0 0 0 0 0 8
CD46, LOC129932405 0 1 4 1 1 0 0 0 0 0 0 0 7
LMAN1, LOC130062607 1 1 3 0 2 0 0 0 0 0 0 0 7
MYH9 0 0 0 0 7 0 0 0 0 0 0 0 7
PLA2G4A 5 1 0 1 0 0 0 0 0 0 0 0 7
ITGB3, LOC130061043 1 3 2 0 0 0 0 0 0 0 0 0 6
ITGB3, LOC130061044 4 3 0 0 0 0 0 0 0 0 0 0 6
ITGB3, LOC130061045 4 1 2 0 0 0 0 0 0 0 0 0 6
CFHR1 0 0 5 0 0 0 0 0 0 0 0 0 5
​intergenic 2 0 2 0 0 0 0 0 0 0 0 0 4
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 2 2 0 0 0 0 0 0 0 0 0 0 4
CFHR2 0 0 0 2 2 0 0 0 0 0 0 0 4
COL4A3, MFF-DT 0 0 0 0 4 0 0 0 0 0 0 0 4
HPS5, LOC130005404 0 1 2 1 0 0 0 0 0 0 0 0 4
HRG, LOC126806897 2 0 2 0 0 0 0 0 0 0 0 0 4
ITGB3, LOC130061041 0 0 3 0 1 0 0 0 0 0 0 0 4
SERPINF2 3 0 1 0 0 0 0 0 0 0 0 0 4
ACVRL1 2 0 1 0 0 0 0 0 0 0 0 0 3
C1GALT1C1 2 0 1 0 0 0 0 0 0 0 0 0 3
COL4A4 0 0 0 0 3 0 0 0 0 0 0 0 3
GGCX, LOC129934217 0 0 3 0 0 0 0 0 0 0 0 0 3
GP1BA, LOC130060044 0 0 3 0 0 0 0 0 0 0 0 0 3
HABP2 0 0 0 2 0 0 0 0 0 0 1 0 3
HPS4, LOC130067147 0 0 1 1 1 0 0 0 0 0 0 0 3
LOC122149309, LOC126805923, LOC126805924, LOC129388636, LOC129388637, LOC129388638, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, ZBTB37 3 0 0 0 0 0 0 0 0 0 0 0 3
LOC126859861, PLG 2 0 1 0 2 0 0 0 0 0 0 0 3
LOC130066607, RUNX1 1 1 0 0 2 0 0 0 0 0 0 0 3
PLA2R1 0 0 0 0 3 0 0 0 0 0 0 0 3
TBXAS1 0 2 1 0 0 0 0 0 0 0 0 0 3
ARL13B, DHFR2, NSUN3, PROS1, STX19 1 1 0 0 0 0 0 0 0 0 0 0 2
BAAT 0 0 0 0 0 0 0 0 0 0 0 2 2
BLOC1S5 2 0 0 0 0 0 0 0 0 0 0 0 2
CFHR4 0 0 0 2 0 0 0 0 0 0 0 0 2
COL4A5 1 0 0 0 1 0 0 0 0 0 0 0 2
F8, F8A1, H2AB1 2 0 0 0 0 0 0 0 0 0 0 0 2
HPS1, LOC130004494 0 0 1 1 0 0 0 0 0 0 0 0 2
ITGB3, LOC110121475 0 0 2 0 0 0 0 0 0 0 0 0 2
LOC126805923, SERPINC1, ZBTB37 2 0 0 0 0 0 0 0 0 0 0 0 2
LOC130066606, RUNX1 0 0 0 0 2 0 0 0 0 0 0 0 2
NPHS1 0 0 0 0 2 0 0 0 0 0 0 0 2
RC3H1, SERPINC1 2 0 0 0 0 0 0 0 0 0 0 0 2
SMARCAL1 0 1 1 0 0 0 0 0 0 0 0 0 2
ABCB7, ABCD1, ACSL4, ACTRT1, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, ALAS2, ALG13, AMER1, AMMECR1, AMOT, APEX2, APLN, APOOL, AR, ARHGAP36, ARHGAP4, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ASB12, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, AWAT1, AWAT2, BCAP31, BCORL1, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CAPN6, CCDC160, CCNQ, CD40LG, CD99L2, CDR1, CDX4, CENPI, CETN2, CHIC1, CHM, CHRDL1, CITED1, CLDN2, CLIC2, CMC4, CNGA2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTAG1A, CTAG1B, CTAG2, CUL4B, CXCR3, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf65, CXorf66, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCX, DGAT2L6, DIAPH2, DKC1, DLG3, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP9, EDA, EDA2R, EFNB1, ELF4, EMD, ENOX2, EOLA1, EOLA2, ERCC6L, ESX1, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM133A, FAM199X, FAM3A, FAM50A, FATE1, FGF13, FGF16, FHL1, FLNA, FMR1, FMR1NB, FOXO4, FOXR2, FRMD7, FRMPD3, FTX, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GCNA, GDI1, GDPD2, GJB1, GLA, GLUD2, GPC3, GPC4, GPR101, GPR119, GPR174, GPR50, GPRASP1, GPRASP2, GPRASP3, GRIA3, GUCY2F, H2AB1, H2AB2, H2AB3, H2BW1, H2BW2, HAUS7, HCFC1, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSFX1, HSFX2, HTATSF1, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL2, IL2RG, INTS6L, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JPX, KCNE5, KIAA1210, KIF4A, KLF8, KLHL13, KLHL4, L1CAM, LAGE3, LAMP2, LAS1L, LDOC1, LHFPL1, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAGED2, MAGEE1, MAGEE2, MAGEH1, MAGT1, MAMLD1, MAP7D3, MBNL3, MCF2, MCTS1, MECP2, MED12, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR223, MIR224, MIR424, MIR448, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MMGT1, MORC4, MORF4L2, MOSPD1, MPP1, MSN, MTCP1, MTM1, MTMR1, MTMR8, MTRNR2L10, NAA10, NALF2, NAP1L2, NAP1L3, NDUFA1, NEXMIF, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NRK, NSDHL, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, OCRL, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE2, PAGE2B, PAGE3, PAGE5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHF6, PHKA1, PIN4, PJA1, PLAC1, PLP1, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, POF1B, POU3F4, PRPS1, PRR32, PRRG3, PSMD10, PWWP3B, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAP2C, RBM41, RBMX, RBMX2, RBMXL3, RENBP, RHOXF1, RHOXF2, RHOXF2B, RIPPLY1, RLIM, RNF113A, RNF128, RPA4, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA6, RRAGB, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, SAGE1, SASH3, SATL1, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLITRK2, SLITRK4, SMARCA1, SMIM10, SMIM9, SNORA11, SNX12, SOWAHD, SOX3, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX2, SSR4, STAG2, STARD8, STEEP1, STK26, SYTL4, TAF1, TAF7L, TAF9B, TAFAZZIN, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TGIF2LX, THOC2, TIMM8A, TKTL1, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMSB15A, TMSB15B, TNMD, TREX2, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, USP26, USP51, UTP14A, VBP1, VCF2, VGLL1, VMA21, VSIG1, VSIG4, WDR44, XIAP, XIST, XKRX, XPNPEP2, YIPF6, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZIC3, ZMAT1, ZMYM3, ZNF185, ZNF275, ZNF280C, ZNF449, ZNF711, ZNF75D, ZXDA, ZXDB 0 0 1 0 0 0 0 0 0 0 0 0 1
ADAMTS13, LOC121366033 0 0 1 0 0 0 0 0 0 0 0 0 1
ADAMTS13, LOC130002909 0 0 0 1 0 0 0 0 0 0 0 0 1
ADPRHL1, ANKRD10, ARHGEF7, ATP11A, ATP11AUN, ATP4B, C13orf46, CARS2, CDC16, CFAP97D2, CHAMP1, COL4A1, COL4A2, CUL4A, DCUN1D2, F10, F7, GAS6, GAS6-DT, GRK1, GRTP1, ING1, IRS2, LAMP1, LINC00354, LINC00368, LINC00370, LINC00396, LINC00399, LINC00404, LINC00431, LINC00452, LINC00454, LINC00552, LINC00567, LINC00676, LINC01043, LINC01044, LINC01070, LINC02337, LINC03032, LINC03061, LINC03082, LOC100506016, LOC101060553, LOC101928730, LOC102725228, LOC105370362, LOC107992391, LOC110121336, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC116268457, LOC121468007, LOC121838584, LOC124946339, LOC124946340, LOC124946341, LOC124946342, LOC124946343, LOC124946344, LOC124946345, LOC124946346, LOC124946347, LOC124946348, LOC126861846, LOC126861847, LOC126861848, LOC126861849, LOC126861850, LOC126861851, LOC126861852, LOC126861853, LOC126861854, LOC126861855, LOC126861856, LOC126861857, LOC126861858, LOC126861859, LOC126861860, LOC126861861, LOC126861862, LOC126861863, LOC126861864, LOC126861865, LOC126861866, LOC126861867, LOC126861868, LOC126861869, LOC126861870, LOC126861871, LOC126861872, LOC126861873, LOC126861874, LOC126861875, LOC126861876, LOC126861877, LOC128772388, LOC128772389, LOC128772390, LOC128772391, LOC128772392, LOC128772393, LOC129390610, LOC130010099, LOC130010100, LOC130010101, LOC130010102, LOC130010103, LOC130010104, LOC130010105, LOC130010106, LOC130010107, LOC130010108, LOC130010109, LOC130010110, LOC130010111, LOC130010112, LOC130010113, LOC130010114, LOC130010115, LOC130010116, LOC130010117, LOC130010118, LOC130010119, LOC130010120, LOC130010121, LOC130010122, LOC130010123, LOC130010124, LOC130010125, LOC130010126, LOC130010127, LOC130010128, LOC130010129, LOC130010130, LOC130010131, LOC130010132, LOC130010133, LOC130010134, LOC130010135, LOC130010136, LOC130010137, LOC130010138, LOC130010139, LOC130010140, LOC130010141, LOC130010142, LOC130010143, LOC130010144, LOC130010145, LOC130010146, LOC130010147, LOC130010148, LOC130010149, LOC130010150, LOC130010151, LOC130010152, LOC130010153, LOC130010154, LOC130010155, LOC130010156, LOC130010157, LOC130010158, LOC130010159, LOC130010160, LOC130010161, LOC130010162, LOC130010163, LOC130010164, LOC130010165, LOC130010166, LOC130010167, LOC130010168, LOC130010169, LOC130010170, LOC130010171, LOC130010172, LOC130010173, LOC130010174, LOC130010175, LOC130010176, LOC130010177, LOC130010178, LOC130010179, LOC130010180, LOC130010181, LOC130010182, LOC130010183, LOC130010184, LOC130010185, LOC130010186, LOC130010187, LOC130010188, LOC130010189, LOC130010190, LOC130010191, LOC130010192, LOC130010193, LOC130010194, LOC130010195, LOC130010196, LOC130010197, LOC130010198, LOC130010199, LOC130010200, LOC130010201, LOC130010202, LOC130010203, LOC130010204, LOC130010205, LOC130010206, LOC130010207, LOC130010208, LOC130010209, LOC130010210, LOC130010211, LOC130010212, LOC130010213, LOC130010214, LOC130010215, LOC130010216, LOC130010217, LOC130010218, LOC130494219, LOC132090172, LOC132090173, LOC132090174, MCF2L, MIR4502, MIR548AR, MIR8073, MIR8075, MYO16, NAXD, PCID2, PRECSIT, PROZ, RAB20, RASA3, RASA3-IT1, SOX1, SOX1-OT, SPACA7, SWINGN, TEX29, TFDP1, TMCO3, TMEM255B, TUBGCP3, UPF3A 1 0 0 0 0 0 0 0 0 0 0 0 1
AGGF1, AP3B1, ARSB, CRHBP, F2RL1, LHFPL2, OTP, PDE8B, S100Z, SCAMP1, TBCA, WDR41, ZBED3 1 0 0 0 0 0 0 0 0 0 0 0 1
AKAP4, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CLCN5, DGKK, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, NUDT10, NUDT11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SHROOM4, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45 0 0 1 0 0 0 0 0 0 0 0 0 1
AMMECR1L, BIN1, CYP27C1, ERCC3, GPR17, HS6ST1, IWS1, LIMS2, MAP3K2, MYO7B, POLR2D, PROC, SAP130, SFT2D3, UGGT1, WDR33 1 0 0 0 0 0 0 0 0 0 0 0 1
ANKRD10, ANKRD10-IT1, ARHGEF7, ATP11A, ATP11AUN, CARS2, COL4A1, COL4A2, F10, F7, ING1, LINC00567, MCF2L, NAXD, RAB20, SOX1, SPACA7, TEX29, TUBGCP3 0 1 0 0 0 0 0 0 0 0 0 0 1
ANKRD45, CACYBP, CENPL, COP1, DARS2, GAS5, GPR52, KIAA0040, KLHL20, LINC01657, LOC105371622, LOC112577515, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, MIR1843, MRPS14, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SCARNA3, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, TNN, TNR, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 0 1
ANKRD45, CACYBP, CENPL, DARS2, GAS5, GPR52, KIAA0040, KLHL20, LOC105371622, LOC112577515, LOC115801455, LOC122149309, LOC122149310, LOC122149311, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, MRPS14, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, TEX50, TNN, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 0 1
ANKRD45, CENPL, DARS2, GAS5, GPR52, KLHL20, LOC100506023, LOC112577515, LOC115801455, LOC120893168, LOC121725064, LOC122149307, LOC122149308, LOC122149309, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, PRDX6, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, TEX50, TNFSF18, TNFSF4, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 0 1
ANO6, LOC130007724, LOC130007725 1 0 0 0 0 0 0 0 0 0 0 0 1
AP1S1, MOGAT3, NAT16, PLOD3, SERPINE1, TRIM56, VGF 0 0 1 0 0 0 0 0 0 0 0 0 1
ARAF, CDK16, CFP, EBP, ELK1, FTSJ1, INE1, JADE3, LINC01560, NDUFB11, PORCN, RBM10, RBM3, RGN, RP2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SYN1, TBC1D25, TIMP1, UBA1, USP11, UXT, WAS, WDR13, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 1 0 0 0 0 0 0 0 0 0 0 0 1
ARL13B, LOC123002313, LOC129937098, LOC129937099, PROS1, STX19 1 0 0 0 0 0 0 0 0 0 0 0 1
ARL13B, PROS1, STX19 0 0 1 0 0 0 0 0 0 0 0 0 1
ATP11C, CXorf66, F9, MCF2, SOX3 1 0 0 0 0 0 0 0 0 0 0 0 1
ATP11C, F9, MCF2 0 0 1 0 0 0 0 0 0 0 0 0 1
ATP5PO, CBR1, CBR3, CFAP298, CHAF1B, CLDN14, CLIC6, CRYZL1, DNAJC28, DONSON, DOP1B, DYRK1A, EPCIP, EVA1C, GART, HLCS, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, KCNJ6, MIS18A, MORC3, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, PIGP, RCAN1, RIPPLY3, RUNX1, SCAF4, SETD4, SIM2, SLC5A3, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, TTC3, URB1, VPS26C 0 0 1 0 0 0 0 0 0 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 0 0 0 0 0 0 0 1
C3AR1 0 1 0 0 0 0 0 0 0 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, MORC3, RUNX1, SETD4 1 0 0 0 0 0 0 0 0 0 0 0 1
CBR1, LINC01436, LOC100506403, LOC101928269, LOC109648314, LOC109648316, LOC109648317, LOC112694741, LOC121627920, LOC121627921, LOC121853028, LOC125418065, LOC125418066, LOC125418067, LOC125418068, LOC126653354, LOC126653355, LOC126653356, LOC126653357, LOC126653358, LOC126653359, LOC126653360, LOC130066593, LOC130066594, LOC130066595, LOC130066596, LOC130066597, LOC130066598, LOC130066599, LOC130066600, LOC130066601, LOC130066602, LOC130066603, LOC130066604, LOC130066605, LOC130066606, LOC130066607, LOC130066608, LOC130066609, LOC130066610, LOC130066611, LOC130066612, LOC130066613, MIR802, RUNX1, RUNX1-IT1, SETD4 0 1 0 0 0 0 0 0 0 0 0 0 1
CDH15 0 0 1 0 0 0 0 0 0 0 0 0 1
CENPL, DARS2, GAS5, LOC122149309, LOC126805922, LOC126805923, LOC126805924, LOC129388635, LOC129388636, LOC129388637, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 0 1
CEP290 0 0 1 0 0 0 0 0 0 0 0 0 1
CFH, CFHR1, CFHR3 1 0 0 0 0 0 0 0 0 0 0 0 1
CFH, CFHR1, CFHR3, LOC126805964, LOC129388721, LOC129932153 1 0 0 0 0 0 0 0 0 0 0 0 1
CHRNA1, WIPF1 0 0 1 0 0 0 0 0 0 0 0 0 1
CLDN16 1 0 0 0 0 0 0 0 0 0 0 0 1
CLIC6, KCNE1, KCNE2, MRPS6, RCAN1, RUNX1, SLC5A3, SMIM11 1 0 0 0 0 0 0 0 0 0 0 0 1
CLIC6, RUNX1 1 0 0 0 0 0 0 0 0 0 0 0 1
CYP4V2, DBET, DUX4, F11, FAT1, FRG1, FRG1-DT, FRG2, KLKB1, LINC01060, LINC01262, LINC01596, LINC02374, LINC02434, LINC02492, LINC02508, LINC02514, LINC02515, LOC101930028, LOC105377603, LOC121056755, LOC121725196, LOC123493253, LOC123493254, LOC123493255, LOC126088085, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC129389253, LOC129993527, LOC132089105, LOC132089106, LOC132089107, LOC132089108, LOC132089109, LOC132089110, LOC132090718, LOC339975, MTNR1A, TRIML1, TRIML2, ZFP42 0 1 0 0 0 0 0 0 0 0 0 0 1
CYP4V2, F11, KLKB1 0 1 0 0 0 0 0 0 0 0 0 0 1
DARS2, GAS5, GPR52, LOC112577515, LOC122149309, LOC126805922, LOC126805923, LOC126805924, LOC129388636, LOC129388637, LOC129388638, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 0 1
DARS2, GAS5, LOC126805922, LOC126805923, LOC126805924, LOC129931940, LOC129931941, RC3H1, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 0 1
F2, ZNF408 0 0 1 0 0 0 0 0 0 0 0 0 1
F8, F8A1, FUNDC2, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068888, LOC130068889, LOC130068890, LOC130068891, LOC130068892, LOC130068893, LOC130068894, MIR1184-1, MPP1, SMIM9 1 0 0 0 0 0 0 0 0 0 0 0 1
F8, F8A1, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068891, LOC130068892, MIR1184-1 1 0 0 0 0 0 0 0 0 0 0 0 1
F8, F8A1, LOC106146150 0 0 0 1 0 0 0 0 0 0 0 0 1
F8, FUNDC2, LOC130068894 1 0 0 0 0 0 0 0 0 0 0 0 1
F8, H2AB1 0 0 1 0 0 0 0 0 0 0 0 0 1
F8, LOC106146143, LOC125467795, LOC130068891, LOC130068892 1 0 0 0 0 0 0 0 0 0 0 0 1
F8, LOC126863349, LOC130068891, LOC130068892 1 0 0 0 0 0 0 0 0 0 0 0 1
F8, LOC130068891, LOC130068892 1 0 0 0 0 0 0 0 0 0 0 0 1
FGG, LOC114827822 0 0 1 0 0 0 0 0 0 0 0 0 1
FLNA, LOC107988032, LOC129929050, LOC129929051, LOC130068855, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, OPN1MW, OPN1MW2, OPN1MW3, TEX28, TKTL1 1 0 0 0 0 0 0 0 0 0 0 0 1
GAS5, LOC126805922, LOC126805923, LOC129931940, LOC129931941, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 0 1
H2AB3, TMLHE 0 0 1 0 0 0 0 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510 0 1 0 0 0 0 0 0 0 0 0 0 1
HPS1, MIR4685 1 1 0 0 0 0 0 0 0 0 0 1 1
KCNE2, RUNX1 1 0 0 0 0 0 0 0 0 0 0 0 1
LAMB2 0 0 0 1 0 0 0 0 0 0 0 0 1
LOC109648314, LOC109648316, LOC121627920, LOC121627921, LOC125418065, LOC125418066, LOC126653354, LOC126653355, LOC130066593, LOC130066594, LOC130066595, LOC130066596, LOC130066597, LOC130066598, LOC130066599, LOC130066600, LOC130066601, LOC130066602, LOC130066603, LOC130066604, LOC130066605, LOC130066606, LOC130066607, RUNX1, RUNX1-IT1 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC109648314, LOC109648316, LOC121627920, LOC121627921, LOC125418065, LOC125418066, LOC126653354, LOC126653355, LOC130066593, LOC130066594, LOC130066595, LOC130066596, LOC130066597, LOC130066598, LOC130066599, LOC130066600, LOC130066601, LOC130066602, LOC130066603, LOC130066604, LOC130066605, LOC130066606, RUNX1, RUNX1-IT1 1 0 0 0 0 0 0 0 0 0 0 0 1
LOC109648316, LOC126653354, RUNX1 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC122149309, LOC126805923, LOC126805924, LOC129388636, LOC129388637, LOC129931942, LOC129931943, LOC129931944, LOC129931945, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 0 1
LOC122149309, LOC126805924, LOC129388636, LOC129388637, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1 1 0 0 0 0 0 0 0 0 0 0 0 1
LOC126805923, LOC126805924, RC3H1, SERPINC1, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 0 1
LOC126805924, LOC129388636, LOC129388637, LOC129931942, LOC129931943, LOC129931944, RC3H1, RC3H1-DT, SERPINC1 1 0 0 0 0 0 0 0 0 0 0 0 1
LOC126806115, LOC126806116, LOC400940, MIR7158, SILC1 0 1 0 0 0 0 0 0 0 0 0 0 1
LOC126860342, WRN 0 0 0 0 1 0 0 0 0 0 0 0 1
LOC129935136, WIPF1 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC130066597, RUNX1 0 0 0 0 1 0 0 0 0 0 0 0 1
MMACHC 1 0 0 0 0 0 0 0 0 0 0 0 1
MYO19, PIGW 0 0 1 0 0 0 0 0 0 0 0 0 1
NLRP3 0 0 0 0 1 0 0 0 0 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 0 0 0 0 0 0 1
NPHP4 0 0 0 1 0 0 0 0 0 0 0 0 1
P2RX1 0 0 1 0 0 0 0 0 0 0 0 0 1
RC3H1, SERPINC1, ZBTB37 1 0 0 0 0 0 0 0 0 0 0 0 1
SEC63 0 0 0 0 1 0 0 0 0 0 0 0 1
SERPINA1 1 0 0 0 0 0 0 0 0 0 0 0 1
SOCS1 0 1 0 0 0 0 0 0 0 0 0 0 1
TMEM67 0 0 1 0 0 0 0 0 0 0 0 0 1
TRPC6 0 0 0 0 1 0 0 0 0 0 0 0 1
TSEN2 1 0 0 0 0 0 0 0 0 0 0 0 1
WT1 0 0 0 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 201
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association established risk allele pathogenic, low penetrance protective risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 542 129 2027 2614 379 0 1 0 1 0 0 0 5693
Illumina Laboratory Services, Illumina 28 18 2114 476 703 0 0 0 0 0 0 0 3269
Fulgent Genetics, Fulgent Genetics 142 299 1282 241 39 0 0 0 0 0 0 0 2003
ClinGen Myeloid Malignancy Variant Curation Expert Panel 101 91 791 373 111 0 0 0 0 0 0 0 1467
OMIM 811 0 3 0 1 3 0 0 0 1 32 0 851
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 226 138 163 36 37 0 0 0 0 0 0 0 600
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 100 183 231 3 4 0 0 0 0 0 0 0 513
NIHR Bioresource Rare Diseases, University of Cambridge 98 238 99 1 0 0 0 0 0 0 0 0 434
Baylor Genetics 72 196 47 0 0 0 0 0 0 0 0 0 315
Genome-Nilou Lab 1 2 68 33 194 0 0 0 0 0 0 0 298
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 142 66 66 4 3 0 0 0 0 0 0 0 280
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 181 93 0 0 0 0 0 0 0 0 0 0 274
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 43 50 133 3 3 0 0 0 0 0 0 0 231
Natera, Inc. 17 5 77 56 46 0 0 0 0 0 0 0 201
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 70 50 24 9 8 0 0 0 0 0 0 0 161
Genome Diagnostics Laboratory, The Hospital for Sick Children 3 5 43 44 58 0 0 0 0 0 0 0 153
Genetics and Molecular Pathology, SA Pathology 42 59 46 2 1 0 0 0 0 0 0 0 150
Neuberg Centre For Genomic Medicine, NCGM 18 33 56 0 0 0 0 0 0 0 0 0 107
Revvity Omics, Revvity 26 41 32 1 0 0 0 0 0 0 0 0 100
Counsyl 5 57 32 3 1 0 0 0 0 0 0 0 98
Mendelics 52 7 16 4 19 0 0 0 0 0 0 0 98
Laboratory of Hematology, Radboud University Medical Center 53 20 19 2 1 0 0 0 0 0 0 0 95
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 44 20 10 0 18 0 0 0 0 0 0 0 92
Juno Genomics, Hangzhou Juno Genomics, Inc 29 33 17 0 0 0 0 0 0 0 0 0 79
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 22 41 15 0 0 0 0 0 0 0 0 0 78
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 22 8 24 16 6 0 0 0 0 0 0 0 76
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 15 11 48 0 0 0 0 0 0 0 0 0 74
3billion, Medical Genetics 34 20 16 3 0 0 0 0 0 0 0 0 73
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 34 9 26 2 0 0 0 0 0 0 0 0 71
ClinGen von Willebrand Disease Variant Curation Expert Panel, ClinGen 25 10 13 10 11 0 0 0 0 0 0 0 69
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 17 13 22 0 0 0 0 0 0 0 0 0 52
GeneReviews 3 0 0 0 1 0 0 0 0 0 0 47 51
Myriad Genetics, Inc. 1 48 2 0 0 0 0 0 0 0 0 0 51
Sydney Genome Diagnostics, Children's Hospital Westmead 13 6 23 0 0 0 0 0 0 0 1 0 43
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 14 11 14 0 1 0 0 0 0 0 0 0 40
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 12 24 1 0 0 0 0 0 0 0 1 0 38
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 1 0 9 27 0 0 0 0 0 0 0 38
MVZ Medizinische Genetik Mainz 9 10 18 0 0 0 0 0 0 0 0 0 37
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 28 3 0 0 0 0 0 0 0 0 35
CSER _CC_NCGL, University of Washington 1 3 23 3 0 0 0 0 0 0 0 0 30
Servicio de Hematología y Oncología médica, Universidad de Murcia 30 0 0 0 0 0 0 0 0 0 0 0 30
Johns Hopkins Genomics, Johns Hopkins University 6 3 13 3 4 0 0 0 0 0 0 0 29
Institute of Human Genetics, University of Leipzig Medical Center 9 4 5 0 0 0 0 0 0 0 0 0 18
Laboratoire de Génétique Moléculaire, CHU Bordeaux 16 2 0 0 0 0 0 0 0 0 0 0 18
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 12 0 1 0 0 0 0 0 0 0 15
Versiti Diagnostic Laboratories, Versiti, Inc 12 0 0 1 1 0 0 0 0 0 0 0 14
Clinical Genomics Laboratory, Washington University in St. Louis 1 2 11 0 0 0 0 0 0 0 0 0 14
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 5 8 0 0 0 0 0 0 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 4 4 0 1 0 0 0 0 0 0 0 14
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 11 0 0 0 0 0 0 0 0 0 0 13
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 7 1 0 0 0 0 0 0 0 0 12
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 5 4 2 0 1 0 0 0 0 0 0 0 12
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 4 7 1 0 0 0 0 0 0 0 0 0 12
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 4 2 6 0 0 0 0 0 0 0 0 0 12
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 4 2 0 0 0 0 0 0 0 0 0 11
Reproductive Health Research and Development, BGI Genomics 6 2 0 0 2 0 0 0 0 0 1 0 11
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz 10 1 0 0 0 0 0 0 0 0 0 0 11
Department of Laboratory Medicine, Ruijin Hospital 9 0 0 0 1 0 0 0 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 7 1 0 1 0 0 0 0 0 0 0 0 9
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 2 3 0 0 0 0 0 0 0 0 0 9
Institute of Human Genetics, University Hospital Muenster 2 4 3 0 0 0 0 0 0 0 0 0 9
New York Genome Center 2 4 3 0 0 0 0 0 0 0 0 0 9
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine 7 1 1 0 0 0 0 0 0 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 7 0 1 0 0 0 0 0 0 0 0 0 8
MGZ Medical Genetics Center 2 3 3 0 0 0 0 0 0 0 0 0 8
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 6 0 0 0 0 0 0 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 6 1 0 0 0 0 0 0 0 0 0 8
Institute of Immunology and Genetics Kaiserslautern 3 4 1 0 0 0 0 0 0 0 0 0 8
Richard Lifton Laboratory, Yale University School of Medicine 0 7 0 0 0 0 0 0 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 6 0 0 0 0 0 0 0 0 0 0 7
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 0 7 0 0 0 0 0 0 0 0 0 0 7
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 5 0 0 0 0 0 0 0 0 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 0 0 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 2 1 0 0 0 0 0 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 1 0 0 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 1 0 0 0 0 0 0 0 0 0 0 6
John Atkinson Laboratory, Washington University School of Medicine in St. Louis 1 0 3 2 0 0 0 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 1 2 2 0 0 0 0 0 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 2 0 0 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 1 0 0 0 0 0 0 0 0 0 5
Blood Cell Research, Sanquin 5 0 0 0 0 0 0 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 2 0 0 0 0 0 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 2 1 1 0 0 0 0 1 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 0 0 0 0 0 0 5
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 5 0 0 0 0 0 0 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 0 5 5
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 0 0 5 0 0 0 0 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 1 2 0 0 0 0 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 0 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 2 0 0 0 0 0 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 2 2 0 0 0 0 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 0 4 4
San Raffaele Telethon Institute for Gene Therapy, San Raffaele Hospital 4 0 0 0 0 0 0 0 0 0 0 0 4
Biochemistry Laboratory, Bechir Hamza Children's Hospital 4 0 0 0 0 0 0 0 0 0 0 0 4
Lifecell International Pvt. Ltd 1 3 0 0 0 0 0 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 1 0 0 0 0 0 0 0 1 0 4
Breakthrough Genomics, Breakthrough Genomics 2 2 0 0 0 0 0 0 0 0 0 0 4
MVZ Dr. Eberhard & Partner Dortmund 0 2 1 0 0 0 0 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 0 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 1 0 0 0 0 0 0 0 0 0 0 3
Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 0 3 0 0 0 0 0 0 0 0 0 0 3
Department of Hematology, 303rd Hospital of the People's Liberation Army 3 0 0 0 0 0 0 0 0 0 0 0 3
Center of Medical Genetics, Central South University 2 1 0 0 0 0 0 0 0 0 0 0 3
Suma Genomics 1 0 2 0 0 0 0 0 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 0 0 3 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 1 0 0 0 0 0 0 0 0 0 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 2 1 0 0 0 0 0 0 0 0 0 3
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University 0 0 3 0 0 0 0 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 2 0 0 0 0 0 0 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 0 0 0 2
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences 1 1 0 0 0 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 0 0 0 0 0 0 2
Molecular Genetics and Enzymology, National Research Centre 2 0 0 0 0 0 0 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 2 0 0 0 0 0 0 0 0 0 2
Variantyx, Inc. 1 0 0 0 0 0 0 0 1 0 0 0 2
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 2 0 0 0 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 1 0 0 0 0 0 0 0 0 0 2
Department of Pediatrics, Third Xiangya Hospital of Central South University 0 2 0 0 0 0 0 0 0 0 0 0 2
Neil Romberg Laboratory, Children's Hospital of Philadelphia 2 0 0 0 0 0 0 0 0 0 0 0 2
Laboratory of Genetic Engineering, National Medical Research Center for Hematology 0 1 0 1 0 0 0 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 2 0 0 0 0 0 0 0 0 0 2
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 0 2 0 0 0 0 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 0 0 0 0 0 0 2
Laboratory for Immunogenetics and Molecular Haemostaseology, Universitaetsklinikum Erlangen 0 2 0 0 0 0 0 0 0 0 0 0 2
DASA 1 1 0 0 0 0 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 0 0 0 0 0 2
Arcensus 0 2 0 0 0 0 0 0 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 1 0 1 0 0 0 0 0 0 0 0 0 2
Pediatric Intensive Care Unit, Shengjing Hospital of China Medical University 2 0 0 0 0 0 0 0 0 0 0 0 2
Molecular Genetics, Raz Pathobiology and Genetic Laboratory 1 1 0 0 0 0 0 0 0 0 0 0 2
Guangzhou First People’s Hospital, Institute of Blood Transfusion and Hematology,Guangzhou Medical University 2 0 0 0 0 0 0 0 0 0 0 0 2
Research Laboratory - Department of Internal Medicine and Hematology, Semmelweis University 0 2 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 0 0 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 0 0 0 0 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 0 0 0 1 1
SNPedia 0 0 0 0 0 0 0 0 0 0 0 1 1
Northern Blood Research Centre, University of Sydney 1 0 0 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 0 0 0 0 0 1
Russ Altman Lab, Stanford University 0 0 0 0 0 0 0 0 0 0 1 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 0 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 0 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 1 0 0 0 0 0 0 0 0 0 0 0 1
Department of Hematology - Research Laboratory 1, Postgraduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 0 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 0 0 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 0 0 0 0 0 0 0 0 0 1
Genatak 1 0 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 0 0 0 0 0 0 1
Hematology and Blood Transfusion, Iran University of Medical Sciences 1 0 0 0 0 0 0 0 0 0 0 0 1
Institute of Clinical Chemistry and Institute of Clinical Molecular Biology, University Hospital Schleswig-Holstein, Campus Kiel 0 1 0 0 0 0 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 0 0 0 1
MAGIC Laboratory, Stellenbosch University 0 1 0 0 0 0 0 0 0 0 0 0 1
Malcovati Lab, University of Pavia 1 0 0 0 0 0 0 0 0 0 0 0 1
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine 0 1 0 0 0 0 0 0 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 0 1 0 0 0 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics, University Hospital Bordeaux 1 0 0 0 0 0 0 0 0 0 0 0 1
Qiaoli Li laboratory, Thomas Jefferson University 0 1 0 0 0 0 0 0 0 0 0 0 1
RUNX1 Natural History Study, National Human Genome Research Institute/National Institutes of Health 1 0 0 0 0 0 0 0 0 0 0 0 1
Unidad de Medicina Traslacional, Hospital de Ninos Ricardo Gutierrez 0 1 0 0 0 0 0 0 0 0 0 0 1
Genetic Service Laboratory, Queen Elizabeth Hospital 0 1 0 0 0 0 0 0 0 0 0 0 1
Markle Lab, Division of Molecular Pathogenesis, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 0 0 0 0 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 0 0 0 0 0 0 1
Nephrogenetics Laboratory, Hacettepe University 1 0 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Bayan National Lab for Medical Diagnostics 0 0 1 0 0 0 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 0 0 0 0 0 1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 0 1 0 0 0 0 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 0 0 0 0 0 1
Reproductive Medicine Center, The First Hospital of Lanzhou University 0 0 1 0 0 0 0 0 0 0 0 0 1
DiNA Science 0 1 0 0 0 0 0 0 0 0 0 0 1

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