ClinVar Miner

Variants studied for B cell deficiency

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
895 441 5374 5066 867 42 12283

Gene and significance breakdown #

Total genes and gene combinations: 120
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DOCK8 117 58 980 1148 120 6 2350
LRBA 128 62 969 911 101 4 2135
PIK3CD 22 17 320 441 56 4 805
STAT3 44 40 280 300 62 7 708
CR2 42 18 324 281 29 0 679
NFKB2 7 7 291 327 32 1 654
PIK3R1 33 11 260 236 20 1 545
TNFRSF13B 38 16 183 115 16 4 341
CD40LG 81 25 79 81 35 2 292
SPINK5 37 27 154 13 56 3 282
AICDA 26 20 134 92 21 0 279
UNG 16 6 131 112 10 1 262
IGLL1 3 1 147 81 23 2 245
BLNK 6 5 89 129 16 0 243
TNFSF12, TNFSF12-TNFSF13 0 0 132 93 11 0 236
BTK 113 47 19 6 10 0 185
ICOS 10 3 82 67 22 0 176
CD79B, GH-LCR 2 1 55 105 8 0 170
CD79A 6 2 71 82 3 0 162
LOC126805612, PIK3CD 3 1 63 79 6 0 147
SPI1 23 4 1 0 109 0 135
LOC130067574, TNFRSF13C 1 1 79 52 8 0 129
LOC130004599, NFKB2 0 1 53 46 4 0 104
BLNK, ZNF518A 3 1 38 51 4 0 96
CR2, LOC126805994 8 2 42 40 3 0 92
NFKB1 23 23 29 5 9 2 85
DOCK8, LOC126860552 2 1 34 31 3 0 71
TNFRSF13C 0 0 40 24 5 0 64
CD19 6 1 46 6 4 0 61
TCF3 6 2 31 12 2 0 53
IKZF1 9 10 12 3 7 0 40
LOC130060888, STAT3 0 0 14 23 3 0 39
CD40 7 1 19 3 9 0 38
LOC130060153, TNFSF12, TNFSF12-TNFSF13 0 0 19 12 1 1 32
DOCK8, LOC130001437 1 0 15 13 2 0 29
ZNF341 5 4 9 1 3 0 22
IL6ST 9 2 10 0 1 0 21
IRF2BP2 1 3 12 1 3 0 20
LRRC8A 0 0 1 7 13 0 19
LOC130004598, NFKB2 0 0 8 9 1 0 18
LOC121815964, NFKB2 0 0 9 7 1 0 17
LOC130008712, UNG 0 1 4 8 0 0 13
IGH, IGHM 5 2 0 1 4 2 12
CD81 1 0 5 4 1 0 11
IRF2BP2, LOC129932812 1 2 4 0 3 0 10
STAT6 6 1 3 1 0 0 10
DOCK8, LOC126860552, LOC130001437, LOC130001438, LOC130001439, LOC130001440 3 0 6 0 0 0 9
LOC130060889, STAT3 0 0 5 4 0 0 9
MS4A1 1 0 5 0 2 1 9
SLC39A7 5 1 3 0 0 0 9
LRBA, MAB21L2 4 1 3 0 0 0 8
IL6R 2 0 4 0 0 1 7
CD40, LOC127893450 0 0 3 0 2 0 5
DOCK8, KANK1 0 0 4 0 0 0 4
DOCK8, LOC126860552, LOC130001439, LOC130001440 0 3 1 0 0 0 4
LOC126807127, NFKB1 1 2 1 0 0 0 4
IRF2BP2, LOC129932811 0 0 3 0 0 0 3
RUVBL1, SEC61A1 1 0 2 0 0 0 3
ABI2, ALS2, BMPR2, CARF, CASP10, CASP8, CATSPERT, CD28, CDK15, CFLAR, CTLA4, CYP20A1, FAM117B, FLACC1, FZD7, ICA1L, ICOS, MPP4, NBEAL1, NDUFB3, NOP58, RAPH1, STRADB, SUMO1, TMEM237, TRAK2, WDR12 1 0 1 0 0 0 2
ACACB, UNG 0 0 2 0 0 0 2
BTK, TIMM8A 0 2 0 0 0 0 2
CTLA4, ICOS 2 0 0 0 0 0 2
DOCK8, LOC130001436 0 0 1 0 1 0 2
IL21, LOC126807147 1 0 1 0 0 0 2
LOC123493218, LRBA 1 0 1 0 0 0 2
LOC130060892, STAT3 0 0 2 0 0 0 2
NFKBID 0 0 2 0 0 0 2
PGM3 2 0 0 0 0 0 2
RAG2 2 0 0 0 0 0 2
SH3KBP1 1 0 0 1 0 0 2
TTC7A 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
A4GALT, ACO2, ATP5MGL, CCDC134, CENPM, CHADL, CSDC2, CYB5R3, CYP2D6, DESI1, EP300, L3MBTL2, MEI1, MIR33A, NAGA, NDUFA6, NFAM1, PHETA2, PHF5A, PMM1, POLDIP3, POLR3H, RANGAP1, RBX1, RRP7A, SEPTIN3, SERHL2, SHISA8, SMDT1, SNU13, SREBF2, TCF20, TEF, TNFRSF13C, TOB2, WBP2NL, XPNPEP3, XRCC6, ZC3H7B 0 0 1 0 0 0 1
ACADVL, ACAP1, ALOX12, ALOX12B, ALOX15B, ALOXE3, ASGR1, ASGR2, ATP1B2, AURKB, BACC1, BCL6B, BORCS6, CD68, CHD3, CHRNB1, CLDN7, CLEC10A, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MIR195, MIR497HG, MPDU1, NAA38, NEURL4, NLGN2, PER1, PHF23, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 0 1
ACADVL, ACAP1, ATP1B2, CD68, CHRNB1, CLDN7, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, KCTD11, MPDU1, NEURL4, NLGN2, PHF23, PLSCR3, POLR2A, SAT2, SENP3, SHBG, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, WRAP53, YBX2, ZBTB4 0 0 1 0 0 0 1
ACO2, CCDC134, CENPM, CSDC2, DESI1, LOC105373044, LOC108348030, LOC110740341, LOC111562373, LOC112695098, LOC121627945, LOC121627946, LOC125446244, LOC126863159, LOC126863160, LOC130067537, LOC130067538, LOC130067539, LOC130067540, LOC130067541, LOC130067542, LOC130067543, LOC130067544, LOC130067545, LOC130067546, LOC130067547, LOC130067548, LOC130067549, LOC130067550, LOC130067551, LOC130067552, LOC130067553, LOC130067554, LOC130067555, LOC130067556, LOC130067557, LOC130067558, LOC130067559, LOC130067560, LOC130067561, LOC130067562, LOC130067563, LOC130067564, LOC130067565, LOC130067566, LOC130067567, LOC130067568, LOC130067569, LOC130067570, LOC130067571, LOC130067572, LOC130067573, LOC130067574, LOC130067575, LOC130067576, LOC130067577, LOC130067578, LOC130067579, LOC130067580, LOC130067581, MEI1, MIR33A, MIR378I, NAGA, PHF5A, PMM1, POLR3H, RANGAP1, SEPTIN3, SHISA8, SMIM45, SNU13, SREBF2, TEF, TNFRSF13C, TOB2, WBP2NL, XRCC6, ZC3H7B 0 0 1 0 0 0 1
ADGRG4, ARHGEF6, BRS3, CD40LG, FHL1, GPR101, HTATSF1, MAP7D3, RBMX, SLC9A6, VGLL1, ZIC3 1 0 0 0 0 0 1
AGBL2, C1QTNF4, CELF1, FAM180B, FNBP4, KBTBD4, LOC124433258, LOC129390282, LOC129390283, LOC130005674, LOC130005675, LOC130005676, LOC130005677, LOC130005678, LOC130005679, LOC130005680, LOC130005681, LOC130005682, LOC130005683, LOC130005684, MIR4487, MTCH2, MYBPC3, NDUFS3, PSMC3, PTPMT1, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 1
AICDA, CLEC4D, CLEC4E, CLEC6A 1 0 0 0 0 0 1
ALDH18A1, BLNK, C10orf131, CC2D2B, CCNJ, ENTPD1, TCTN3, ZNF518A 0 0 1 0 0 0 1
ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SACK1G, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B 0 0 1 0 0 0 1
ANGPT1 0 0 0 1 0 0 1
ANGPTL7, CASZ1, CENPS, CENPS-CORT, CIROZ, CLSTN1, CORT, CTNNBIP1, DFFA, EXOSC10, KIF1B, LZIC, MASP2, MTOR, NMNAT1, PEX14, PGD, PIK3CD, RBP7, SRM, TARDBP, UBE4B 0 0 1 0 0 0 1
ARID4B, B3GALNT2, COA6, EDARADD, ERO1B, GGPS1, GNG4, GPR137B, IRF2BP2, LINC00184, LINC01132, LINC01348, LINC01354, LINC02768, LINC02961, LINC02971, LINC03108, LNCATV, LOC101927787, LOC105373209, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC111365197, LOC111365208, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC126264117, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129869688, LOC129929020, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932870, LOC129932871, LOC129932872, LOC129932873, LOC129932874, LOC129932875, LOC129932876, LOC129932877, LOC132088684, LYST, MIR1537, MIR4671, MIR4753, NID1, RBM34, SLC35F3, SNORA14B, TARBP1, TBCE, TOMM20 1 0 0 0 0 0 1
ARID4B, B3GALNT2, COA6, GGPS1, GNG4, IRF2BP2, KCNK1, LINC00184, LINC01132, LINC01348, LINC01354, LINC02768, LINC02961, LINC02971, LINC03108, LNCATV, LOC101927787, LOC105373209, LOC107546745, LOC107546746, LOC107546747, LOC107548103, LOC111365197, LOC111365208, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC126264117, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129869688, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC132088683, LOC132088684, LYST, MIR1537, MIR4427, MIR4671, MIR4753, NID1, RBM34, SLC35F3, SNORA14B, TARBP1, TBCE, TOMM20 1 0 0 0 0 0 1
BANK1, BDH2, CENPE, CISD2, MANBA, NFKB1, SLC39A8, SLC9B1, SLC9B2, TACR3, UBE2D3 0 1 0 0 0 0 1
BCLAF3, SH3KBP1 0 0 1 0 0 0 1
C1orf116, C4BPA, C4BPB, CD34, CD46, CD55, CR1, CR1L, CR2, FCAMR, FCMR, IL10, IL19, IL20, IL24, MIR29B2CHG, MIR29C, PFKFB2, PIGR, PLXNA2, YOD1 0 0 1 0 0 0 1
C22orf15, CHCHD10, DERL3, DRICH1, IGLL1, MIF, MMP11, RGL4, SLC2A11, SMARCB1, VPREB3, ZNF70 0 0 1 0 0 0 1
CAVIN1, STAT3, STAT5A, STAT5B 0 0 1 0 0 0 1
CCDC40 1 0 0 0 0 0 1
CD40LG, LOC130068753 1 0 0 0 0 0 1
CD79A, RPS19 0 0 1 0 0 0 1
CENPS, CENPS-CORT, CLSTN1, CORT, CTNNBIP1, DFFA, KIF1B, LZIC, NMNAT1, PEX14, PGD, PIK3CD, RBP7, UBE4B 0 0 1 0 0 0 1
CR2, LOC129932399 0 0 0 0 1 0 1
CRB2 0 0 0 1 0 0 1
CTLA4 0 1 0 0 0 0 1
DMRT1, DOCK8, KANK1 0 0 1 0 0 0 1
DOCK8, LOC110120718, LOC126860552, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440, ZNG1A 1 0 0 0 0 0 1
DOCK8, LOC126860552, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440 1 0 0 0 0 0 1
DOCK8, LOC130001437, LOC130001438 0 0 1 0 0 0 1
DOCK8, LOC130001438 0 0 1 0 0 0 1
DOP1A, PGM3 1 0 0 0 0 0 1
EFCAB13-DT, ITGB3 1 0 0 0 0 0 1
HTR6, LOC126805645, LOC126805646, LOC129929579, LOC129929580, RNF186, TMCO4 0 1 0 0 0 0 1
IGHM 1 0 0 0 0 0 1
IKBKG 0 0 1 0 0 0 1
IL21 0 0 0 0 1 0 1
IRF2BP2, LOC129932810 0 0 1 0 0 0 1
LOC108281188, LOC123493218, LOC129993220, LRBA 0 0 1 0 0 0 1
LOC108281188, LOC129993220, LRBA 0 0 1 0 0 0 1
LOC108281188, LOC129993221, LOC129993222, LOC129993223, LRBA 1 0 0 0 0 0 1
LOC121815964, LOC130004598, LOC130004599, NFKB2 0 0 1 0 0 0 1
LOC123493216, LOC129993219, LRBA 1 0 0 0 0 0 1
LOC129993220, LRBA 0 0 1 0 0 0 1
MANBA, NFKB1 1 0 0 0 0 0 1
NFKB2, PSD 1 0 0 0 0 0 1
POLA1 0 0 1 0 0 0 1
SEC61A1 1 0 0 0 0 0 1
STIM1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 148
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 498 133 4617 4891 552 0 10691
Illumina Laboratory Services, Illumina 2 2 417 54 165 0 640
OMIM 224 0 0 0 0 0 224
Genome-Nilou Lab 3 3 45 11 115 0 177
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 35 47 88 0 172
Fulgent Genetics, Fulgent Genetics 17 30 78 31 5 0 161
Neil Romberg Laboratory, Children's Hospital of Philadelphia 23 0 0 0 109 0 132
Baylor Genetics 11 4 90 0 0 0 105
Neuberg Centre For Genomic Medicine, NCGM 9 18 63 0 0 0 90
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 41 39 2 3 3 0 88
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 4 66 4 1 0 80
3billion 35 19 16 7 0 0 77
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 7 25 37 0 0 0 69
Revvity Omics, Revvity 4 8 52 0 0 0 64
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 14 20 25 2 1 0 62
ClinGen Antibody Deficiencies Variant Curation Expert Panel, ClinGen 3 9 18 19 5 0 54
Department of Pathology and Laboratory Medicine, Sinai Health System 4 10 35 1 4 0 54
Institute of Human Genetics, University of Leipzig Medical Center 21 9 9 0 0 0 39
Rarefied Biosciences Lab 0 6 0 33 0 0 39
Mendelics 11 8 7 4 0 0 30
New York Genome Center 0 2 28 0 0 0 30
Department of Human Genetics, Hannover Medical School 7 9 8 0 0 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 1 7 0 0 0 21
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 20 20
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 17 0 1 0 0 0 18
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 13 0 0 0 16
National Institute of Immunohaematology, Indian Council of Medical Research 5 9 2 0 0 0 16
Juno Genomics, Hangzhou Juno Genomics, Inc 8 2 5 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 0 3 8 3 0 0 14
Next Generation Genetic Polyclinic 4 8 2 0 0 0 14
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 2 7 0 0 0 13
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 9 3 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 4 6 0 0 0 12
First Genomix Gene Laboratory, Genetic Diagnostics Department 3 9 0 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 12 12
NIHR Bioresource Rare Diseases, University of Cambridge 10 1 1 0 0 0 12
Dubai Health Genomic Medicine Center, Dubai Health 4 0 4 2 1 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 4 6 0 11
Johns Hopkins Genomics, Johns Hopkins University 3 2 5 1 0 0 11
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 3 5 0 0 0 10
Immunology Clinic, Ucla 3 0 0 6 1 0 10
SIB Swiss Institute of Bioinformatics 7 2 0 0 0 0 9
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 6 3 0 0 0 0 8
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 6 2 0 0 0 0 8
Variantyx, Inc. 1 7 0 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 1 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 5 0 7
GeneReviews 0 0 0 0 0 7 7
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 3 0 0 0 0 6
Division of Clinical Immunology and Allergy, Necmettin Erbakan University, Faculty of Medicine 0 2 3 1 0 0 6
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 1 3 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 5 0 0 0 0 6
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 0 6
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 0 0 0 4 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 4 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 3 1 1 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 1 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 1 0 0 0 5
MVZ Medizinische Genetik Mainz 1 1 3 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital 1 2 2 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 0 0 0 0 0 5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 5 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 0 0 0 0 4
Centre for Medical Genetics, Mumbai 0 1 0 3 0 0 4
Department of Immunology, University Hospital Southampton NHSFT 4 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 4
Genomics Facility, Ludwig-Maximilians-Universität München 2 2 0 0 0 0 4
Healthincode, Healthincode group 2 2 0 0 0 0 4
Institute of Human Genetics, Cologne University 1 2 1 0 0 0 4
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis 4 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
Samuels research lab, Centre de Recherche du CHU Ste-Justine 4 0 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 3
Centre of Chronic Immunodeficiency, Freiburg University 3 0 0 0 0 0 3
Clinical Immunology, Karolinska University Hospital 2 1 0 0 0 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 2 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
Immunogenetics Laboratory, Johns Hopkins All Children's Hospital 1 2 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo 0 1 2 0 0 0 3
Precision Medical Center, Wuhan Children's Hospital 0 1 2 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 2 0 0 0 0 3
Suma Genomics 2 0 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 2
Immunodeficiencies, Instituto Nacional de Pediatria 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Intergen Genetics and Rare Diseases Diagnosis Center 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Narges Medical Genetic and Prenatal Diagnosis Lab 0 2 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 1 0 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 1
Biomedical Innovation Departament, CIEMAT 1 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 1 0 0 0 0 0 1
Department of Medicine, University of Cambridge 1 0 0 0 0 0 1
Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (NIIH), Indian Council of Medical Research (ICMR) 1 0 0 0 0 0 1
Department of Pediatrics, GMC Srinagar, Government Medical College Srinagar 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Fundacion Publica Galega de Medicina Xenomica, Servicio Galego de Saude 1 0 0 0 0 0 1
Genetech, Genetech Research Institute 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 1 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institutes for Systems Genetics, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory of Hereditary Immune Disorders, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, Federal State Budgetary Educational Institution of Higher Education, Saint Petersburg State Pediatric Medical University of the Ministry of Health of the Russian Federation 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 0 1 0 0 0 0 1
Molecular Genetics Laboratory - Diagnostics Genetics, LabPLUS - Auckland City Hospital 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Molecular Oncology, MVR Cancer Centre and Research Institute 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Pediatrics Department, Hospital General Granollers 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Routes Lab, Medical College of Wisconsin 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio 1 0 0 0 0 0 1
The Clinical Immunogenomics Research Consortium Australasia, Garvan Institute of Medical Research 0 0 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Yong Wu Laboratory, Medical Research Institute, Shenzhen Baoan Women’s and Children’s Hospital 0 1 0 0 0 0 1

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