ClinVar Miner

Variants studied for coagulation protein disease

Included ClinVar conditions (78):
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 risk factor not provided total
1166 827 2053 1235 461 3 1 1 2 3 35 5254

Gene and significance breakdown #

Total genes and gene combinations: 59
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association established risk allele pathogenic, low penetrance risk factor not provided total
F5 66 43 259 581 99 0 0 1 1 1 3 917
VWF 235 193 345 63 67 0 0 0 0 1 19 770
F8 390 196 117 29 29 0 0 0 0 0 1 708
F9 178 81 61 201 45 0 1 0 0 0 3 512
F2 25 15 60 231 19 0 0 0 1 1 0 328
F11 52 118 122 11 19 0 0 0 0 0 1 278
F7 39 54 102 8 6 0 0 0 0 0 3 189
GGCX 4 7 126 16 29 0 0 0 0 0 1 183
PLG 10 7 120 8 9 0 0 0 0 0 0 152
FGA 17 19 99 8 6 0 0 0 0 0 0 144
F13A1 28 15 68 7 17 0 0 0 0 0 0 131
MCFD2 8 3 75 6 25 0 0 0 0 0 0 115
THBD 5 4 97 3 0 0 0 0 0 0 0 109
FGB 10 2 69 5 21 0 0 0 0 0 0 105
LMAN1 6 3 69 7 14 0 0 0 0 0 0 99
F10 19 25 44 3 7 0 0 0 0 0 0 92
SERPINE1 2 0 55 9 15 0 0 0 0 0 3 81
F13B 8 2 49 2 4 0 0 0 0 0 0 64
FGG 15 11 31 3 4 0 0 0 0 0 0 58
F12 6 6 30 6 6 0 0 0 0 0 0 52
GP1BA 9 15 5 0 2 0 0 0 0 0 1 31
VKORC1 1 1 13 4 5 0 0 0 0 0 0 23
KLKB1 9 6 3 2 2 0 0 0 0 0 0 20
F12, SLC34A1 0 0 0 10 3 0 0 0 0 0 0 13
F10, F7 0 0 0 10 2 0 0 0 0 0 0 12
KNG1 5 0 1 0 0 3 0 0 0 0 0 9
GGCX, MAT2A 0 0 6 1 1 0 0 0 0 0 0 8
LOC129933675, MCFD2 0 0 7 0 1 0 0 0 0 0 0 8
LMAN1, LOC130062607 1 1 3 0 2 0 0 0 0 0 0 7
GP1BA, LOC130060044 0 0 4 0 0 0 0 0 0 0 0 4
SERPINF2 3 0 1 0 0 0 0 0 0 0 0 4
ACVRL1 2 0 1 0 0 0 0 0 0 0 0 3
GGCX, LOC129934217 0 0 3 0 0 0 0 0 0 0 0 3
LOC126859861, PLG 2 0 1 0 2 0 0 0 0 0 0 3
F8, F8A1, H2AB1 2 0 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 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 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 1
AP1S1, MOGAT3, NAT16, PLOD3, SERPINE1, TRIM56, VGF 0 0 1 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 1
ATP11C, F9, MCF2 0 0 1 0 0 0 0 0 0 0 0 1
CDH15 0 0 1 0 0 0 0 0 0 0 0 1
CFI 0 0 1 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 1
CYP4V2, F11, KLKB1 0 1 0 0 0 0 0 0 0 0 0 1
F2, ZNF408 0 0 1 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 1
F8, F8A1, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068891, LOC130068892, MIR1184-1 1 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 1
F8, FUNDC2, LOC130068894 1 0 0 0 0 0 0 0 0 0 0 1
F8, H2AB1 0 0 1 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 1
F8, LOC126863349, LOC130068891, LOC130068892 1 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 1
FGG, LOC114827822 0 0 1 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 1
H2AB3, TMLHE 0 0 1 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 1
SERPINA1 1 0 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 125
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association established risk allele pathogenic, low penetrance risk factor not provided total
Illumina Laboratory Services, Illumina 17 8 989 244 258 0 0 0 0 0 0 1464
Labcorp Genetics (formerly Invitae), Labcorp 140 42 133 925 143 0 1 0 1 0 0 1385
OMIM 554 0 1 0 1 3 0 0 0 0 0 559
Fulgent Genetics, Fulgent Genetics 59 87 321 36 15 0 0 0 0 0 0 518
NIHR Bioresource Rare Diseases, University of Cambridge 75 151 72 1 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 0 280
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 49 101 124 3 0 0 0 0 0 0 0 273
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 149 55 0 0 0 0 0 0 0 0 0 204
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 28 33 113 3 2 0 0 0 0 0 0 178
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 64 48 22 9 8 0 0 0 0 0 0 151
Genetics and Molecular Pathology, SA Pathology 35 51 34 2 1 0 0 0 0 0 0 123
Department of Pathology and Laboratory Medicine, Sinai Health System 7 15 81 1 3 0 0 1 0 0 0 108
Genome-Nilou Lab 0 2 0 4 95 0 0 0 0 0 0 101
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 46 24 11 0 19 0 0 0 0 0 0 100
Laboratory of Hematology, Radboud University Medical Center 53 20 19 2 1 0 0 0 0 0 0 95
Counsyl 4 56 32 2 0 0 0 0 0 0 0 94
ClinGen von Willebrand Disease Variant Curation Expert Panel, ClinGen 28 13 15 10 11 0 0 0 0 0 0 77
Neuberg Centre For Genomic Medicine, NCGM 6 17 27 0 0 0 0 0 0 0 0 50
3billion 23 15 10 0 0 0 0 0 0 0 0 48
Juno Genomics, Hangzhou Juno Genomics, Inc 17 18 8 0 0 0 0 0 0 0 0 43
Natera, Inc. 3 0 5 25 8 0 0 0 0 0 0 41
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 21 2 11 1 0 0 0 0 0 0 0 35
Mendelics 16 4 6 2 6 0 0 0 0 0 0 34
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 9 21 0 0 0 0 0 0 0 0 34
Baylor Genetics 9 6 18 0 0 0 0 0 0 0 0 33
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 9 14 9 0 0 0 0 0 0 0 0 32
Revvity Omics, Revvity 12 12 5 0 0 0 0 0 0 0 0 29
GeneReviews 0 0 0 0 1 0 0 0 0 0 28 29
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 17 1 0 0 0 0 0 0 1 0 25
Myriad Genetics, Inc. 0 14 2 0 0 0 0 0 0 0 0 16
Versiti Diagnostic Laboratories, Versiti, Inc 11 0 0 1 1 0 0 0 0 0 0 13
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz 10 1 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 10
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 2 5 0 0 0 0 0 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 3 1 0 0 0 0 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 3 0 0 0 0 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 2 3 0 0 0 0 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 4 1 3 0 0 0 0 0 0 0 0 8
Institute of Human Genetics, University Hospital Muenster 2 4 2 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 8
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 6 0 1 0 0 0 0 0 0 0 0 7
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 3 4 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 7
Institute of Immunology and Genetics Kaiserslautern 3 3 1 0 0 0 0 0 0 0 0 7
Reproductive Health Research and Development, BGI Genomics 4 0 0 0 1 0 0 0 0 1 0 6
New York Genome Center 2 3 1 0 0 0 0 0 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 4 0 0 0 0 0 0 0 0 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 3 0 0 0 0 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 2 1 0 0 0 0 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 1 0 0 0 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 4 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 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 3 0 0 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 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 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 3 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 0 0 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 2 0 0 0 0 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 2 0 0 0 0 0 0 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 0 0 0 1 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 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 2 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 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 1 0 0 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 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 2
Molecular Genetics and Enzymology, National Research Centre 2 0 0 0 0 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 0 0 0 0 0 2
Variantyx, Inc. 1 0 0 0 0 0 0 0 1 0 0 2
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 2 0 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 0 0 0 0 2
Institute of Clinical Chemistry and Institute of Clinical Molecular Biology, University Hospital Schleswig-Holstein, Campus Kiel 1 1 0 0 0 0 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 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 2
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 0 2 0 0 0 0 0 0 0 0 0 2
Suma Genomics 1 0 1 0 0 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 1 0 0 0 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 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 2
Institute of Human Genetics, University of Goettingen 0 1 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 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 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 1 1
SNPedia 0 0 0 0 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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 1
Institute of Human Genetics, University of Wuerzburg 0 1 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 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 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 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 0 0 0 0 1
Genatak 1 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 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 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 1
Human Genetics Section, Sidra Medicine 0 1 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 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 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 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 0 0 1 0 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 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 1
Arcensus 0 1 0 0 0 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 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 1
MVZ Medizinische Genetik Mainz 1 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 1
Molecular Genetics, Raz Pathobiology and Genetic Laboratory 1 0 0 0 0 0 0 0 0 0 0 1
Cancer Genetics Lab, Istanbul University Institute of Oncology 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 1
DiNA Science 0 1 0 0 0 0 0 0 0 0 0 1

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