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
720 295 4812 3843 740 2 1 1 32 10158

Gene and significance breakdown #

Total genes and gene combinations: 113
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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 101 36 956 832 120 0 0 0 5 1976
LRBA 83 47 914 684 100 0 0 0 4 1798
PIK3CD 10 4 251 335 54 0 0 0 1 644
CR2 34 15 312 215 29 0 0 0 0 592
STAT3 41 28 225 228 56 0 0 0 7 566
NFKB2 6 5 220 247 30 0 0 0 1 500
PIK3R1 23 7 198 168 20 0 0 0 1 414
TNFRSF13B 33 11 171 86 16 2 0 1 3 302
SPINK5 27 8 169 17 57 0 0 0 2 272
CD40LG 73 19 56 67 33 0 0 0 2 242
UNG 13 2 128 96 10 0 0 0 1 237
AICDA 21 16 118 66 21 0 0 0 0 230
IGLL1 3 0 126 67 23 0 0 0 2 212
BLNK 4 4 84 97 16 0 0 0 0 203
TNFSF12, TNFSF12-TNFSF13 0 0 102 74 11 0 0 0 0 187
BTK 99 38 16 7 10 0 1 0 0 162
ICOS 9 3 78 54 21 0 0 0 0 158
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 52 65 6 0 0 0 0 124
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 43 5 4 0 0 0 0 58
NFKB1 20 17 14 4 7 0 0 0 0 58
TNFRSF13C 0 0 31 18 5 0 0 0 0 49
TCF3 5 2 21 13 3 0 0 0 0 43
CD40 6 0 23 3 9 0 0 0 0 41
DOCK8, LOC130001437 2 0 15 11 2 0 0 0 0 29
IKZF1 9 6 10 1 3 0 0 0 0 28
LOC130060888, STAT3 0 0 10 16 3 0 0 0 0 28
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 6 0 1 0 0 0 0 15
IRF2BP2 1 2 8 1 3 0 0 0 0 15
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
SPI1 5 4 0 0 0 0 0 0 0 8
IL6R 2 0 4 0 0 0 0 0 1 7
LRBA, MAB21L2 4 1 2 0 0 0 0 0 0 7
MS4A1 1 0 5 0 1 0 0 0 0 7
SLC39A7 5 1 1 0 0 0 0 0 0 7
CD40, LOC127893450 0 0 3 1 2 0 0 0 0 6
STAT6 6 0 0 0 0 0 0 0 0 6
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
LOC126807127, NFKB1 1 1 1 0 0 0 0 0 0 3
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
CTLA4, ICOS 2 0 0 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
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, 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 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
BTK, TIMM8A 0 1 0 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
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
IRF2BP2, LOC129932811 0 0 1 0 0 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
NFKB2, PSD 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: 119
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele likely risk allele risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 397 104 4163 3720 538 0 0 0 0 8922
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 11 4 90 0 0 0 0 0 0 105
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 31 36 2 3 3 0 0 0 0 75
Neuberg Centre For Genomic Medicine, NCGM 6 16 48 0 0 0 0 0 0 70
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
3billion 21 10 3 7 0 0 0 0 0 41
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 15 16 1 1 0 0 0 0 39
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 11 8 7 0 0 0 0 0 0 26
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 17 0 1 0 0 0 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 1 4 0 0 0 0 0 0 16
Genetics and Molecular Pathology, SA Pathology 0 3 8 3 0 0 0 0 0 14
Juno Genomics, Hangzhou Juno Genomics, Inc 7 1 5 0 0 0 0 0 0 13
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 9 3 0 0 0 0 0 13
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 5 0 0 0 0 0 0 9
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
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
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 3 0 0 0 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 1 0 0 0 0 0 0 5
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 4 0 0 0 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 1 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
Department of Human Genetics, Hannover Medical School 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
Immunology Clinic, Ucla 3 0 0 0 1 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 2 0 0 0 0 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 0 0 0 3
Diagnostic Genetics, Severance Hospital, 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
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 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
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
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 0 0 0 2
Immunodeficiencies, Instituto Nacional de Pediatria 2 0 0 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 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
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
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
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 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 0 0 0 1
The Clinical Immunogenomics Research Consortium Australasia, Garvan Institute of Medical Research 0 0 0 0 1 0 0 0 0 1

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