ClinVar Miner

Variants studied for lymphoid system disorder

Included ClinVar conditions (123):
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 not provided total
2025 1691 10176 9505 1172 150 23268

Gene and significance breakdown #

Total genes and gene combinations: 165
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LYST 145 122 1504 1616 94 44 3375
RELN 48 17 1224 1147 163 2 2466
NPC1 374 347 592 1206 75 14 2346
GATA2 159 54 709 534 36 3 1457
UNC13D 113 53 506 739 66 5 1405
SOS2 8 7 644 633 95 1 1325
STXBP2 53 61 370 598 48 4 1084
SMPD1 201 266 184 407 42 10 939
AP3B1 38 31 382 297 44 1 760
PRF1 105 56 255 255 33 4 648
FAT4 6 7 552 20 17 2 601
RELN, SLC26A5 8 6 271 265 31 0 556
MPI 65 96 94 280 21 1 499
SOS1 27 31 310 108 38 2 489
SLC29A3 40 11 230 180 32 0 474
STX11 18 15 206 144 26 2 392
PTPN11 82 58 158 39 21 9 322
RAB27A 48 20 122 88 26 0 292
RIT1 29 22 140 102 6 1 277
NPC2 35 37 54 135 5 10 246
RRAS 0 0 133 103 9 0 245
CCBE1 7 3 163 23 52 5 242
LZTR1 37 54 124 2 0 3 205
DCLRE1C 12 54 107 17 20 0 201
BLOC1S6 19 10 60 80 7 1 171
BRAF 24 21 85 40 3 8 168
RAF1 23 25 89 28 7 2 151
LOC112533672, UNC13D 13 7 41 87 7 0 149
KRAS 19 17 58 42 1 2 136
RAG1 14 8 85 10 20 0 135
KIF11 41 38 27 3 1 2 109
NRAS 11 6 64 19 7 5 108
RAG2 11 4 78 9 11 0 105
LOC126860130, RELN, SLC26A5 1 0 41 52 7 0 98
PIEZO1 13 13 39 11 21 0 97
CHRNG 21 27 40 1 2 0 87
LOC126806063, LYST 5 4 25 36 1 1 67
SOX18 5 1 54 5 0 0 65
LOC126860131, RELN 0 0 18 38 5 0 58
CHRNG, TIGD1 2 6 36 3 3 1 49
FLT4 13 5 21 0 8 0 47
HSALR1, PIEZO1 6 4 18 5 13 0 45
LOC130005193, SMPD1 11 7 10 21 2 0 41
FOXC2 21 7 8 2 0 0 36
CELSR1 4 4 23 0 0 0 30
EPHB4 4 9 9 2 4 0 28
LOC130055588, SOS2 0 0 12 15 1 0 27
PTPN14 2 0 15 0 7 0 24
GJC2 3 0 12 1 0 1 17
MAP2K1 2 4 3 7 0 0 16
MAP2K2 1 3 8 5 0 0 16
LOC129933535, SOS1 0 0 7 5 2 0 14
SHOC2 1 2 7 3 0 0 13
ADAMTS3 3 0 5 1 3 0 12
BRAF, LOC126860202 0 0 9 1 0 0 10
HRAS, LRRC56 2 2 3 3 0 0 10
LOC130004025, SLC29A3 0 2 3 3 2 0 10
APOE 1 1 4 3 0 1 9
LOC130067016, LZTR1 1 3 5 0 0 0 9
MAPK1 4 3 2 0 0 0 9
CBL 4 3 1 0 0 0 8
LOC129932856, LYST 0 0 6 1 1 0 8
SPRED1 0 0 4 4 0 0 8
RRAS2 2 2 3 0 1 0 7
FAM219B, MPI 0 0 5 0 1 0 6
FHL1 0 1 0 2 3 0 6
LOC130005368, RRAS2 5 1 0 0 0 0 6
LOC130066420, SOX18 0 0 6 0 0 0 6
MRAS 3 0 3 0 0 0 6
THSD1 5 1 1 0 0 0 6
CHRND 0 0 3 2 0 0 5
CHRND, CHRNG 0 0 1 4 2 0 5
EPHB4, LOC126860124 2 0 3 0 0 0 5
LOC130061690, UNC13D 0 0 4 0 1 0 5
MAP2K1, SNAPC5 0 0 4 1 1 0 5
MDFIC 4 1 1 0 0 0 5
VEGFC 2 0 0 0 3 0 5
BCL10 3 0 1 0 0 0 4
CHRNA1 0 0 2 0 2 0 4
DCHS1 0 0 4 0 0 0 4
HSALR1, LOC130059751, PIEZO1 0 0 1 1 2 0 4
KRAS, LOC130007561 0 0 4 0 0 0 4
LOC129997366, STX11 0 0 3 0 1 0 4
NPC1, RMC1 0 0 4 0 0 0 4
PPP1CB 1 2 0 1 0 0 4
SPRED2 3 1 0 0 0 0 4
A2ML1 0 0 2 1 0 0 3
ANGPT2, MCPH1 2 0 1 0 0 0 3
CALCRL 1 0 0 0 2 0 3
CELSR1, LOC121627952 0 0 2 1 0 0 3
ERG 3 0 0 0 0 0 3
IFTAP, RAG2 0 0 2 0 1 0 3
LOC129931249, NRAS 0 0 2 1 0 0 3
MKRN2, RAF1 0 0 2 1 0 0 3
NPC2, SYNDIG1L 0 0 2 0 1 0 3
PIK3CA 2 1 0 0 0 0 3
PTPN11, RPL6 0 0 2 1 0 0 3
RC3H1 1 0 2 0 0 0 3
ACYP1, NPC2 1 0 1 2 2 1 2
AP3D1 0 0 2 0 0 0 2
APBB1, SMPD1 2 0 0 0 0 2 2
COL11A2 0 1 1 0 0 0 2
DNAJC2, PMPCB, PSMC2, RELN, SLC26A5 1 0 1 0 0 0 2
LOC130056094, NPC2 0 0 2 0 0 0 2
LOC130063193, MAP2K2 0 0 2 0 0 0 2
MET 0 0 1 1 0 0 2
MIR4709, NPC2 0 0 2 0 0 0 2
PCP2, PET100, STXBP2 1 0 1 0 0 0 2
RASA2 0 1 1 0 0 0 2
SMCHD1 0 1 1 0 0 0 2
​intergenic 0 1 0 0 0 0 1
ABHD3, ANKRD29, CABLES1, CTAGE1, ESCO1, GATA6, GREB1L, LAMA3, MIB1, MIR1-2, MIR133A1, NPC1, RBBP8, RIOK3, RMC1, SNRPD1, TMEM241 0 0 1 0 0 0 1
ABTB1, ACAD9, ADCY5, ALDH1L1, C3orf22, CCDC14, CFAP100, CFAP92, CHCHD6, CHST13, CNBP, COPG1, DNAJB8, EEFSEC, EFCAB12, EFCC1, GATA2, GP9, H1-10, H1-8, HACD2, HEG1, HMCES, IFT122, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KLF15, LINC01565, MBD4, MCM2, MGLL, MUC13, MYLK, OSBPL11, PLXNA1, PLXND1, PODXL2, PRR23E, RAB43, RAB7A, RHO, ROPN1, ROPN1B, RPN1, RUVBL1, SEC61A1, SLC12A8, SLC41A3, SNX4, TMCC1, TPRA1, TRH, TXNRD3, TXNRD3NB, UMPS, UROC1, ZNF148, ZXDC 1 0 0 0 0 0 1
ABTB1, ACAD9, ALG1L2, ATP2C1, CFAP92, CNBP, COL6A5, COL6A6, COPG1, DNAJB8, EEFSEC, EFCAB12, EFCC1, GATA2, GP9, H1-10, H1-8, HMCES, IFT122, ISY1, ISY1-RAB43, KBTBD12, LINC01565, MBD4, MCM2, MGLL, PIK3R4, PLXNA1, PLXND1, PODXL2, PRR23E, RAB43, RAB7A, RHO, RPN1, RUVBL1, SEC61A1, TMCC1, TPRA1, TRH 0 0 1 0 0 0 1
ABTB1, ADCY5, ALDH1L1, ARGFX, C3orf22, CASR, CCDC14, CD86, CFAP100, CHCHD6, CHST13, CSTA, DNAJB8, DTX3L, EAF2, EEFSEC, FAM162A, FBXO40, FSTL1, GATA2, GOLGB1, GTF2E1, HACD2, HCLS1, HEG1, HGD, HSPBAP1, ILDR1, IQCB1, ITGB5, KALRN, KBTBD12, KLF15, KPNA1, LINC01565, MCM2, MGLL, MIX23, MUC13, MYLK, NDUFB4, OSBPL11, PARP14, PARP15, PARP9, PDIA5, PLXNA1, PODXL2, POLQ, PRR23E, RABL3, ROPN1, ROPN1B, RUVBL1, SEC22A, SEC61A1, SEMA5B, SLC12A8, SLC15A2, SLC41A3, SLC49A4, SNX4, STXBP5L, TPRA1, TXNRD3, TXNRD3NB, UMPS, UROC1, WDR5B, ZNF148, ZXDC 1 0 0 0 0 0 1
ACAD11, ACAD9, ACKR4, ACP3, ALG1L2, AMOTL2, ANAPC13, ASTE1, ATP2C1, BFSP2, C3orf36, CDV3, CEP63, CFAP92, CNBP, COL6A5, COL6A6, COPG1, CPNE4, DNAJB8, DNAJC13, EEFSEC, EFCAB12, EFCC1, EPHB1, GATA2, GP9, H1-10, H1-8, HMCES, IFT122, IL20RB, ISY1, ISY1-RAB43, KY, LINC01565, MBD4, MRPL3, MSL2, NCK1, NEK11, NPHP3, NUDT16, PCCB, PIK3R4, PLXND1, PPP2R3A, RAB43, RAB6B, RAB7A, RHO, RPN1, RYK, SLC35G2, SLCO2A1, SRPRB, STAG1, TF, TMCC1, TMEM108, TOPBP1, TRH, UBA5 1 0 0 0 0 0 1
ACAD9, GATA2, LINC01565, RAB7A, RPN1 1 0 0 0 0 0 1
ACTN2, ARID4B, B3GALNT2, EDARADD, ERO1B, GGPS1, GNG4, GPR137B, HEATR1, LGALS8, LYST, NID1, RBM34, TBCE, TOMM20 1 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 1
ANGPT2, LOC123987613, LOC126860291, MCPH1 1 0 0 0 0 0 1
ANKRD29, CABLES1, LAMA3, NPC1, RBBP8, RIOK3, RMC1, TMEM241 1 0 0 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 1
ATL1, CDKL1, DMAC2L, L2HGDH, MAP4K5, NIN, SAV1, SOS2 0 0 1 0 0 0 1
B3GALNT2, GNG4, LYST 0 0 1 0 0 0 1
B3GALNT2, GNG4, LYST, TBCE 1 0 0 0 0 0 1
BRAF, LOC129999507 0 0 1 0 0 0 1
CAMSAP3, CCL25, CD209, CD320, CERS4, CLEC4G, CLEC4M, CTXN1, ELAVL1, EVI5L, FBN3, FCER2, LRRC8E, MAP2K7, MCEMP1, MCOLN1, PCP2, PET100, PNPLA6, RETN, SNAPC2, STXBP2, TGFBR3L, TIMM44, TRAPPC5, XAB2 0 0 1 0 0 0 1
CCPG1, DNAAF4, PIERCE2, PIGB, RAB27A 0 0 1 0 0 0 1
CDKL4, MAP4K3, SOS1 0 0 1 0 0 0 1
CELSR1, LOC126863169 1 0 0 0 0 0 1
CFTR 1 0 0 0 0 0 1
CHRNG, LOC129935864 0 1 0 0 0 0 1
CLTC 1 0 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 1
DAP3, GON4L, MSTO1, RIT1, SYT11, YY1AP1 0 0 1 0 0 0 1
DCLRE1C, SUV39H2 0 0 0 0 1 0 1
DMPK 0 0 1 0 0 0 1
DNAJB8, EEFSEC, GATA2, LINC01565, RAB7A, RPN1 1 0 0 0 0 0 1
DNAJB8, EEFSEC, GATA2, RUVBL1, SEC61A1 1 0 0 0 0 0 1
DNAJB8, GATA2 1 0 0 0 0 0 1
EIF4EBP2, NODAL, PALD1, PRF1 0 0 1 0 0 0 1
EPHB4, SLC12A9 0 0 0 0 1 0 1
ERF 0 0 1 0 0 0 1
FLT4, LOC126807632 0 0 0 0 1 0 1
FUCA2, HYMAI, LTV1, PEX3, PHACTR2, PLAGL1, SF3B5, STX11, ZC2HC1B 1 0 0 0 0 0 1
G6PD, IKBKG, LOC108281126 0 0 1 0 0 0 1
GATA2, LOC117038771 1 0 0 0 0 0 1
GATA2, LOC129937517 0 0 1 0 0 0 1
GJB2 1 0 0 0 0 0 1
HAFML, VEGFC 0 0 0 1 0 0 1
HPS3 0 1 0 0 0 0 1
IDH2, IDH2-DT 0 0 1 0 0 0 1
IL7R 0 1 0 0 0 0 1
L2HGDH, SOS2 0 0 1 0 0 0 1
LEMD3 0 0 1 0 0 0 1
LOC126805720, TIE1 1 0 0 0 0 0 1
LOC129389024, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, LOC129936184, LOC129936185, RAF1, TMEM40 0 0 1 0 0 0 1
LOC130057340, MAP2K1 0 0 0 1 0 0 1
LOC130057954, UNC45A 1 0 0 0 0 0 1
LOC130063381, STXBP2 0 0 1 0 0 0 1
NOD2 0 0 1 0 0 0 1
PIGB, RAB27A 1 0 0 0 0 0 1
RASA1 1 0 0 0 0 0 1
TIE1 1 0 0 0 0 0 1
UNC45A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 245
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1182 349 6602 8864 731 0 17728
Illumina Laboratory Services, Illumina 20 9 1826 305 392 0 2549
Fulgent Genetics, Fulgent Genetics 142 241 1087 177 19 0 1666
Genome-Nilou Lab 29 27 231 158 237 0 682
Baylor Genetics 169 302 120 0 0 0 591
Natera, Inc. 73 21 207 80 78 0 459
OMIM 324 0 1 0 0 0 325
Counsyl 26 185 95 8 1 0 315
Revvity Omics, Revvity 33 20 218 0 0 0 271
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 149 93 1 0 2 0 245
Service de Génétique Moléculaire, Hôpital Robert Debré 18 47 87 50 0 0 202
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 121 58 0 0 0 0 179
Molecular Pathology Research Laboratory, SA Pathology 119 43 13 0 0 0 175
Clinical Genomics Laboratory, Washington University in St. Louis 7 8 149 0 0 0 164
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 74 17 41 7 0 0 139
3billion, Medical Genetics 68 19 16 12 0 0 115
Neuberg Centre For Genomic Medicine, NCGM 37 37 41 0 0 0 115
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 3 93 3 4 0 106
GeneReviews 0 0 0 0 0 101 101
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 37 22 39 1 1 0 100
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 22 4 67 6 0 0 98
Centogene AG - the Rare Disease Company 63 33 1 0 0 0 97
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 22 1 9 17 45 0 94
Myriad Genetics, Inc. 7 75 8 0 0 0 90
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 32 14 16 7 1 0 70
Mendelics 24 13 10 6 9 0 62
Juno Genomics, Hangzhou Juno Genomics, Inc 28 21 9 0 0 0 58
New York Genome Center 10 4 43 0 0 0 57
Institute of Human Genetics, University of Leipzig Medical Center 22 10 13 0 0 0 45
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 13 30 0 44
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 19 22 0 0 0 0 41
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 13 27 1 0 0 0 41
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 21 10 7 0 0 0 38
Molecular Genetics, Centre for Human Genetics 27 4 6 0 0 0 37
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 23 8 3 0 0 0 34
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 18 9 0 28
Genetic Services Laboratory, University of Chicago 24 2 1 0 0 0 27
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 15 12 0 0 0 0 27
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 12 13 0 27
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 13 9 5 0 0 0 27
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 18 8 0 0 0 0 26
ClinGen RASopathy Variant Curation Expert Panel 24 1 0 0 0 0 25
MGZ Medical Genetics Center 15 5 3 1 0 0 24
Genetics and Molecular Pathology, SA Pathology 13 3 6 2 0 0 24
Genomic Research Center, Shahid Beheshti University of Medical Sciences 8 4 11 0 0 0 23
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 23 0 0 0 0 0 23
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 18 3 1 0 0 0 22
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 10 7 5 0 0 0 22
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 4 9 0 1 0 21
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 10 9 0 20
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 12 6 1 1 0 0 20
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 5 5 3 2 5 0 20
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 16 3 0 0 0 0 19
DASA 17 1 0 0 0 0 18
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 7 10 0 0 0 0 17
Genomic Medicine Lab, University of California San Francisco 12 4 1 0 0 0 17
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 10 1 5 0 0 0 16
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 6 10 0 0 0 16
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 16 16
Blueprint Genetics 11 2 2 0 0 0 15
Shanghain Institute for Pediatric Research 15 0 0 0 0 0 15
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 6 3 6 0 0 0 15
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 8 4 2 0 0 0 14
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 2 0 0 0 0 12
Johns Hopkins Genomics, Johns Hopkins University 3 1 3 2 3 0 12
Center for Human Genetics, Inc, Center for Human Genetics, Inc 9 0 1 1 0 0 11
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 11 11
Center of Genomic medicine, Geneva, University Hospital of Geneva 8 3 0 0 0 0 11
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 7 4 0 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 10 10
UCLA Clinical Genomics Center, UCLA 3 6 0 0 0 0 9
Department of Human Genetics, University Hospital Magdeburg 6 2 1 0 0 0 9
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 4 1 4 0 0 0 9
Centre for Human Genetics 2 3 3 0 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 7 1 0 0 0 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 5 0 0 0 8
Genomics England Pilot Project, Genomics England 6 2 0 0 0 0 8
Molecular Genetics, Royal Melbourne Hospital 1 0 4 0 3 0 8
Institute of Human Genetics, University of Goettingen 1 1 5 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 3 2 0 0 0 7
Laboratory of Metabolic Disorders, Peking University First Hospital 7 0 0 0 0 0 7
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 7 0 0 0 0 0 7
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 5 1 1 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 6 0 0 0 0 7
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 5 0 2 0 0 0 7
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 7 0 0 0 0 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 1 3 0 0 0 7
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 4 0 0 0 7
Institute of Immunology and Genetics Kaiserslautern 6 1 0 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 2 1 3 0 0 0 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 2 1 0 0 0 6
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 4 0 0 0 0 6
Phosphorus, Inc. 0 0 6 0 0 0 6
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 1 4 0 0 0 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 3 0 3 0 0 0 6
GenomeConnect - CFC International 0 0 0 0 0 6 6
MVZ Medizinische Genetik Mainz 0 1 5 0 0 0 6
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 1 1 0 0 0 5
UniProtKB/Swiss-Prot 0 0 0 0 0 5 5
Duke University Health System Sequencing Clinic, Duke University Health System 4 1 0 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 2 2 1 0 0 0 5
Blood Cell Research, Sanquin 5 0 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 4 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 1 1 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 3 0 2 0 0 0 5
Undiagnosed Diseases Network, NIH 4 0 1 0 0 0 5
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 2 3 0 0 0 0 5
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 3 1 1 0 0 0 5
Molecular Genetics Lab, CHRU Brest 1 1 3 0 0 0 5
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 5 0 0 0 0 0 5
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 4 1 0 0 0 0 5
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 2 1 0 0 0 4
Institute of Human Genetics, Cologne University 1 1 2 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 2 0 0 0 0 4
Hadassah Hebrew University Medical Center 0 4 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 1 0 0 0 4
Genomics Facility, Ludwig-Maximilians-Universität München 3 1 0 0 0 0 4
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 3 1 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 1 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 0 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 2 0 0 0 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 2 0 0 0 3
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 3 0 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 0 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 1 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 2 0 1 0 0 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 2 0 0 0 0 3
Lifecell International Pvt. Ltd 3 0 0 0 0 0 3
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 2 0 0 0 0 3
Suma Genomics 1 0 1 1 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Solve-RD Consortium 0 3 0 0 0 0 3
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Inje University Ilsan Paik Hospital 2 1 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 2
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 1 1 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 0 0 0 0 0 2
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 2 0 0 0 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
Shendure Lab, University of Washington 2 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 0 2 0 0 0 0 2
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 2
Clinical laboratory, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 2 0 0 0 0 2
Fan Lab, Zhengzhou University 0 2 0 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 1 0 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 1 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 2 0 0 0 0 0 2
Medical Genetics Unit, Sapienza University of Rome 2 0 0 0 0 0 2
Pars Genome Lab 0 0 2 0 0 0 2
Genomics, Clalit Research Institute, Clalit Health Care 0 2 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 1 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Eurofins-Biomnis 2 0 0 0 0 0 2
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 2 0 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 1 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 0 0 0 0 0 2
Dr.Nikuei Genetic Center 1 0 0 1 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 1 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 0 1 0 0 0 0 1
Laboratorio de Medicina Genomica, Hospital General de Culiacan 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, CHU RENNES 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
MK Azim Lab, Mohammad Ali Jinnah University 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 1 0 0 0 0 0 1
Aleixo Muise Laboratory, Hospital For Sick Children 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
University Health Network, Familial Cancer Clinic, Princess Margaret Cancer Centre 0 1 0 0 0 0 1
Research Laboratories, P. D. Hinduja Hospital & MRC 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
James Bennett Lab, Seattle Childrens Research Institute 1 0 0 0 0 0 1
Department of Pediatrics, The Affiliated Hospital of Qingdao University 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Genetics Laboratory, University of Sistan and Baluchestan 0 1 0 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 0 0 1
Growth and Development Research Center, Tehran University of Medical Sciences 0 1 0 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 1 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Department of Medical Genetics, Bayan National Lab for Medical Diagnostics 1 0 0 0 0 0 1
Department of Molecular Genetics, Genome Genetics Laboratory 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 0 1 0 0 0 0 1
Institute of Tissue Medicine and Pathology, University of Bern 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 0 1
Laboratoire de Génome Humain et Maladies Multifactorielles, Monastir Universite 1 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1

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