ClinVar Miner

Variants studied for B cell deficiency

Included ClinVar conditions (64):
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 established risk allele likely risk allele risk factor not provided total
696 262 4771 3836 738 2 1 1 32 10062

Gene and significance breakdown #

Total genes and gene combinations: 110
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele likely risk allele risk factor not provided total
DOCK8 99 36 953 831 119 0 0 0 5 1971
LRBA 77 37 909 683 100 0 0 0 4 1781
PIK3CD 9 4 247 335 53 0 0 0 1 640
CR2 34 15 311 215 29 0 0 0 0 591
STAT3 41 27 219 228 56 0 0 0 7 559
NFKB2 7 5 220 247 30 0 0 0 1 501
PIK3R1 23 6 197 168 20 0 0 0 1 412
TNFRSF13B 31 11 168 86 16 2 0 1 3 298
SPINK5 26 7 172 17 57 0 0 0 2 273
CD40LG 72 18 54 67 33 0 0 0 2 238
UNG 13 2 128 96 10 0 0 0 1 237
AICDA 19 14 118 66 21 0 0 0 0 226
IGLL1 3 0 125 67 23 0 0 0 2 211
BLNK 4 3 84 97 16 0 0 0 0 202
TNFSF12, TNFSF12-TNFSF13 0 0 102 74 11 0 0 0 0 187
ICOS 9 3 78 54 21 0 0 0 0 158
BTK 95 32 14 6 10 0 1 0 0 150
CD79B, GH-LCR 2 0 53 86 8 0 0 0 0 149
CD79A 4 2 71 64 3 0 0 0 0 142
LOC126805612, PIK3CD 1 0 51 65 6 0 0 0 0 123
LOC130067574, TNFRSF13C 1 1 59 43 8 0 0 0 0 101
LOC130004599, NFKB2 0 0 46 35 4 0 0 0 0 85
BLNK, ZNF518A 2 0 36 36 4 0 0 0 0 78
CR2, LOC126805994 5 0 40 32 3 0 0 0 0 77
DOCK8, LOC126860552 2 1 38 22 3 0 0 0 0 66
CD19 6 1 41 5 4 0 0 0 0 56
NFKB1 20 13 14 4 7 0 0 0 0 54
TNFRSF13C 0 0 31 18 5 0 0 0 0 49
CD40 5 0 23 3 9 0 0 0 0 40
TCF3 3 1 16 9 3 0 0 0 0 31
DOCK8, LOC130001437 2 0 15 11 2 0 0 0 0 29
LOC130060888, STAT3 0 0 10 16 3 0 0 0 0 28
IKZF1 9 6 9 1 3 0 0 0 0 27
LOC130060153, TNFSF12, TNFSF12-TNFSF13 0 0 15 10 1 0 0 0 0 26
LRRC8A 0 0 1 6 13 0 0 0 0 18
ZNF341 5 2 6 1 3 0 0 0 0 17
LOC121815964, NFKB2 0 0 9 6 1 0 0 0 0 16
IL6ST 9 0 4 0 1 0 0 0 0 13
IRF2BP2 1 1 7 1 3 0 0 0 0 13
LOC130004598, NFKB2 0 0 5 7 1 0 0 0 0 13
IGH, IGHM 5 2 0 1 4 0 0 0 2 12
LOC130008712, UNG 0 1 3 7 0 0 0 0 0 11
CD81 1 0 4 4 1 0 0 0 0 10
IRF2BP2, LOC129932812 1 2 4 0 3 0 0 0 0 10
DOCK8, LOC126860552, LOC130001437, LOC130001438, LOC130001439, LOC130001440 3 0 6 0 0 0 0 0 0 9
LOC130060889, STAT3 0 0 5 4 0 0 0 0 0 9
MS4A1 1 0 5 0 1 0 0 0 0 7
SPI1 5 3 0 0 0 0 0 0 0 7
CD40, LOC127893450 0 0 3 1 2 0 0 0 0 6
SLC39A7 5 0 1 0 0 0 0 0 0 6
STAT6 6 0 0 0 0 0 0 0 0 6
IL6R 2 0 2 0 0 0 0 0 1 5
LRBA, MAB21L2 4 0 1 0 0 0 0 0 0 5
DOCK8, KANK1 0 0 4 0 0 0 0 0 0 4
DOCK8, LOC126860552, LOC130001439, LOC130001440 0 3 1 0 0 0 0 0 0 4
ABI2, ALS2, BMPR2, C2CD6, CARF, CASP10, CASP8, 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 0 0 0 2
ACACB, UNG 0 0 2 0 0 0 0 0 0 2
DOCK8, LOC130001436 0 0 1 0 1 0 0 0 0 2
IL21, LOC126807147 1 0 1 0 0 0 0 0 0 2
LOC123493218, LRBA 1 0 1 0 0 0 0 0 0 2
LOC126807127, NFKB1 0 1 1 0 0 0 0 0 0 2
LOC130060892, STAT3 0 0 2 0 0 0 0 0 0 2
NFKBID 0 0 2 0 0 0 0 0 0 2
PGM3 2 0 0 0 0 0 0 0 0 2
RAG2 2 0 0 0 0 0 0 0 0 2
SH3KBP1 1 0 0 1 0 0 0 0 0 2
TTC7A 2 0 0 0 0 0 0 0 0 2
​intergenic 1 0 0 0 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 0 0 0 1
ACADVL, ACAP1, ALOX12, ALOX12B, ALOX15B, ALOXE3, ASGR1, ASGR2, ATP1B2, AURKB, BCL6B, BORCS6, C17orf49, 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 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 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 0 0 0 1
ADGRG4, ARHGEF6, BRS3, CD40LG, FHL1, GPR101, HTATSF1, MAP7D3, RBMX, SLC9A6, VGLL1, ZIC3 1 0 0 0 0 0 0 0 0 1
AICDA, CLEC4D, CLEC4E, CLEC6A 1 0 0 0 0 0 0 0 0 1
ALDH18A1, BLNK, C10orf131, CC2D2B, CCNJ, ENTPD1, TCTN3, ZNF518A 0 0 1 0 0 0 0 0 0 1
ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B 0 0 1 0 0 0 0 0 0 1
ANGPTL7, C1orf127, CASZ1, CENPS, CENPS-CORT, CLSTN1, CORT, CTNNBIP1, DFFA, EXOSC10, KIF1B, LZIC, MASP2, MTOR, NMNAT1, PEX14, PGD, PIK3CD, RBP7, SRM, TARDBP, UBE4B 0 0 1 0 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 0 0 0 1
BANK1, BDH2, CENPE, CISD2, MANBA, NFKB1, SLC39A8, SLC9B1, SLC9B2, TACR3, UBE2D3 0 1 0 0 0 0 0 0 0 1
BCLAF3, SH3KBP1 0 0 1 0 0 0 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 0 0 0 1
C22orf15, CHCHD10, DERL3, DRICH1, IGLL1, MIF, MMP11, RGL4, SLC2A11, SMARCB1, VPREB3, ZNF70 0 0 1 0 0 0 0 0 0 1
CAVIN1, STAT3, STAT5A, STAT5B 0 0 1 0 0 0 0 0 0 1
CCDC40 1 0 0 0 0 0 0 0 0 1
CD40LG, LOC130068753 1 0 0 0 0 0 0 0 0 1
CD79A, RPS19 0 0 1 0 0 0 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 0 0 0 1
CR2, LOC129932399 0 0 0 0 1 0 0 0 0 1
CTLA4 0 1 0 0 0 0 0 0 0 1
CTLA4, ICOS 1 0 0 0 0 0 0 0 0 1
DMRT1, DOCK8, KANK1 0 0 1 0 0 0 0 0 0 1
DOCK8, LOC110120718, LOC126860552, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440, ZNG1A 1 0 0 0 0 0 0 0 0 1
DOCK8, LOC126860552, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440 1 0 0 0 0 0 0 0 0 1
DOCK8, LOC130001435 0 0 0 0 1 0 0 0 0 1
DOCK8, LOC130001437, LOC130001438 0 0 1 0 0 0 0 0 0 1
DOCK8, LOC130001438 0 0 1 0 0 0 0 0 0 1
DOP1A, PGM3 1 0 0 0 0 0 0 0 0 1
IGHM 1 0 0 0 0 0 0 0 0 1
IKBKG 0 0 1 0 0 0 0 0 0 1
IL21 0 0 0 0 1 0 0 0 0 1
LOC108281188, LOC123493218, LOC129993220, LRBA 0 0 1 0 0 0 0 0 0 1
LOC108281188, LOC129993220, LRBA 0 0 1 0 0 0 0 0 0 1
LOC108281188, LOC129993221, LOC129993222, LOC129993223, LRBA 1 0 0 0 0 0 0 0 0 1
LOC121815964, LOC130004598, LOC130004599, NFKB2 0 0 1 0 0 0 0 0 0 1
LOC123493216, LOC129993219, LRBA 1 0 0 0 0 0 0 0 0 1
LOC129993220, LRBA 0 0 1 0 0 0 0 0 0 1
MANBA, NFKB1 1 0 0 0 0 0 0 0 0 1
RUVBL1, SEC61A1 1 0 0 0 0 0 0 0 0 1
SEC61A1 1 0 0 0 0 0 0 0 0 1
STIM1 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 111
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele likely risk allele risk factor not provided total
Invitae 388 100 4155 3720 538 0 0 0 0 8901
Illumina Laboratory Services, Illumina 2 2 442 62 170 0 0 0 0 678
OMIM 221 0 0 0 0 0 0 0 0 221
Genome-Nilou Lab 3 3 45 11 115 0 0 0 0 177
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 15 34 79 0 0 0 0 130
Baylor Genetics 10 4 89 0 0 0 0 0 0 103
Fulgent Genetics, Fulgent Genetics 5 2 51 31 5 0 0 0 0 94
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 4 67 3 1 0 0 0 0 80
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 35 2 3 3 0 0 0 0 71
Revvity Omics, Revvity 2 7 45 0 0 0 0 0 0 54
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 20 21 0 0 0 0 0 0 47
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 10 27 0 0 0 0 0 0 41
3billion 21 10 3 0 0 0 0 0 0 34
New York Genome Center 0 2 28 0 0 0 0 0 0 30
Mendelics 10 8 7 4 0 0 0 0 0 29
Institute of Human Genetics, University of Leipzig Medical Center 8 7 4 0 0 0 0 0 0 19
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 17 0 1 0 0 0 0 0 0 18
Genetics and Molecular Pathology, SA Pathology 0 3 8 3 0 0 0 0 0 14
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 9 3 0 0 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 1 3 0 0 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 4 6 0 0 0 0 0 0 12
NIHR Bioresource Rare Diseases, University of Cambridge 10 1 1 0 0 0 0 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 12 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 4 6 0 0 0 0 11
Centogene AG - the Rare Disease Company 2 3 5 0 0 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 10 10
SIB Swiss Institute of Bioinformatics 7 2 0 0 0 0 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 3 1 5 0 0 0 0 0 0 9
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 4 2 1 0 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 2 1 0 0 0 0 0 0 8
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 6 3 0 0 0 0 0 0 0 8
GeneReviews 0 0 0 0 0 0 0 0 7 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 5 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 1 0 0 0 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 0 0 0 0 6
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 0 0 0 4 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 4 0 0 0 0 0 0 6
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 3 0 0 0 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 4 0 0 0 0 0 0 5
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital 1 1 2 0 0 0 1 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 0 0 0 4
Samuels research lab, Centre de Recherche du CHU Ste-Justine 4 0 0 0 0 0 0 0 0 4
Department of Immunology, University Hospital Southampton NHSFT 4 0 0 0 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 0 0 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 0 0 4
Genomics Facility, Ludwig-Maximilians-Universität München 2 2 0 0 0 0 0 0 0 4
Healthincode, Healthincode group 2 2 0 0 0 0 0 0 0 4
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis 4 0 0 0 0 0 0 0 0 4
Institute of Human Genetics, Cologne University 0 2 1 0 0 0 0 0 0 3
Centre of Chronic Immunodeficiency, Freiburg University 3 0 0 0 0 0 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 0 1 0 3
Immunogenetics Laboratory, Johns Hopkins All Children's Hospital 1 2 0 0 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 0 0 0 3
Department of Laboratory Medicine, Yonsei University College of Medicine 2 1 0 0 0 0 0 0 0 3
Suma Genomics 2 0 1 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 2 0 0 0 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 2 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 0 0 0 2
Immunology Clinic, Ucla 2 0 0 0 0 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 0 0 0 2
Immunodeficiencies, Instituto Nacional de Pediatria 2 0 0 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 0 0 0 2
Narges Medical Genetic and Prenatal Diagnosis Lab 0 2 0 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory - Diagnostics Genetics, LabPLUS - Auckland City Hospital 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 0 0 1
Department of Medicine, University of Cambridge 1 0 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Genetech, Genetech Research Institute 0 0 1 0 0 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 0 0 1
Fundacion Publica Galega de Medicina Xenomica, Servicio Galego de Saude 1 0 0 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 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 1
Biomedical Innovation Departament, CIEMAT 1 0 0 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 0 0 0 1
Routes Lab, Medical College of Wisconsin 1 0 0 0 0 0 0 0 0 1
Clinical Immunology, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 0 0 1
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio 1 0 0 0 0 0 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 0 1 0 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 0 1
Molecular Oncology, MVR Cancer Centre and Research Institute 1 0 0 0 0 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 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 0 0 0 1

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