ClinVar Miner

Variants studied for bone remodeling disease

Included ClinVar conditions (107):
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 association likely risk allele risk factor not provided total
1176 502 3223 1706 676 3 1 3 34 7055

Gene and significance breakdown #

Total genes and gene combinations: 115
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor not provided total
LRP4 10 8 434 423 49 0 0 0 0 912
EXT1 363 36 261 167 29 0 0 0 0 835
EXT2 150 20 292 189 52 0 0 0 1 666
SQSTM1 30 3 320 224 34 0 0 0 0 588
FERMT3 15 5 194 229 36 0 0 0 1 471
TCIRG1 56 125 209 28 16 0 0 0 1 394
LRP5 7 7 156 95 8 0 0 0 2 273
PHEX 155 43 27 19 10 0 0 0 0 247
ENPP1 15 6 103 26 60 0 0 0 2 208
CLCN7 18 19 118 11 45 0 0 0 5 205
COL1A1 17 9 133 26 16 0 0 0 5 202
VDR 21 8 137 14 17 0 0 0 1 192
ANKH, OTULIN 0 0 87 1 62 0 0 0 0 150
SLC34A3 27 22 72 35 7 0 0 0 1 146
PHEX, PTCHD1 82 31 17 4 7 0 0 0 0 135
CTSK 28 71 35 8 3 0 0 0 0 130
TNFRSF11A 8 4 67 20 16 0 0 0 0 108
OSTM1 5 1 58 8 29 0 0 0 0 100
CYP27B1 27 19 41 10 2 0 1 0 0 94
SLC34A1 5 5 40 20 22 0 0 0 0 89
DMP1 5 3 48 5 16 0 0 0 0 74
FGF23 4 2 35 11 24 0 0 0 0 74
TNFRSF11B 6 1 39 3 15 0 0 0 0 64
EXT2, LOC126861201 3 2 32 22 1 0 0 0 0 59
SOST 7 1 25 5 7 0 0 0 11 53
CA2 8 4 24 9 5 0 0 0 0 47
ANKH 4 2 9 2 28 0 0 0 0 44
AMER1 14 6 18 5 0 0 0 0 1 43
LOC129995449, SQSTM1 0 2 14 25 1 0 0 0 0 41
TNFSF11 3 1 23 2 7 0 0 0 0 36
CYP2R1, PDE3B 4 3 12 8 0 0 0 0 0 25
CLCN5 3 6 7 5 1 0 0 0 1 22
COL1A2 8 1 8 5 0 0 0 0 0 22
LOC130009662, TNFSF11 0 0 13 3 5 0 0 0 2 22
MRNIP, SQSTM1 0 0 14 3 2 0 0 0 0 19
PLS3 4 7 2 1 1 3 0 0 0 17
ANKH, LOC100130744, OTULIN 4 0 0 2 11 0 0 0 0 15
F12, SLC34A1 0 0 0 10 9 0 0 0 0 13
LOC130062628, TNFRSF11A 3 0 5 2 1 0 0 0 0 11
CLCN7, LOC130058166 0 0 8 1 1 0 0 0 0 10
LRRK1 5 0 4 1 0 0 0 0 0 10
EXT2, LOC130005598 0 0 3 0 6 0 0 0 0 9
LOC112997583, SQSTM1 0 1 7 0 1 0 0 0 0 9
CA2, CA3 1 0 6 0 1 0 0 0 0 8
LOC126861753, TNFSF11 1 0 6 0 1 0 0 0 0 8
MAP2K1 5 0 0 3 0 0 0 0 0 8
NHERF1 2 1 6 1 0 0 0 0 0 8
COL1A1, LOC126862586 2 1 1 2 1 0 0 0 0 7
EXT1, LOC130001002 0 0 4 1 2 0 0 0 0 7
LOC129996933, OSTM1 1 0 4 2 0 0 0 0 0 7
PLEKHM1 3 1 2 0 1 0 0 0 0 7
SNX10 2 2 1 1 1 0 0 0 0 7
CLCN5, LOC126863258 1 0 5 0 0 0 0 0 0 6
LOC130003098, SLC34A3 0 0 4 0 1 0 0 0 0 5
NHERF1, SLC9A3R1 1 0 3 2 1 0 0 0 0 5
GJA1 2 0 2 0 0 0 0 0 0 4
LOC130005663, LRP4 0 0 1 3 0 0 0 0 0 4
LOC130068043, PHEX, PTCHD1 4 0 0 0 0 0 0 0 0 4
WNT1 0 0 0 1 0 0 0 3 0 4
ZNF687 2 1 3 0 0 0 0 0 0 4
​intergenic 1 2 0 0 0 0 0 0 0 3
LOC126861752, TNFSF11 0 0 1 1 2 0 0 0 0 3
SLC4A2 2 0 1 0 0 0 0 0 0 3
ANKH, LOC129993725 0 0 1 0 1 0 0 0 0 2
CBLL2, PHEX, PTCHD1 2 0 0 0 0 0 0 0 0 2
FERMT3, LOC130005912 0 0 2 0 0 0 0 0 0 2
HTR2C, IL13RA2, LRCH2, LUZP4, MIR448, PLS3, RBMXL3 2 0 0 0 0 0 0 0 0 2
ITGB2 0 2 0 0 0 0 0 0 0 2
LEMD3 2 0 0 0 0 0 0 0 0 2
LOC130007784, VDR 0 0 2 0 0 0 0 0 0 2
MIR6753, TCIRG1 0 2 0 0 0 0 0 0 0 2
NDUFS8, TCIRG1 0 0 0 1 1 0 0 0 0 2
A4GALT 1 0 0 0 0 0 0 0 0 1
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, LINC00536, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, TRPS1, UTP23 0 0 1 0 0 0 0 0 0 1
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, UTP23 0 0 1 0 0 0 0 0 0 1
ADAMTS2, CANX, CBY3, GRM6, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1, ZNF354C, ZNF879 0 0 1 0 0 0 0 0 0 1
ADAMTS2, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1 0 0 1 0 0 0 0 0 0 1
AHNAK, ARL2, ASRGL1, ATG2A, ATL3, B3GAT3, BAD, BATF2, BEST1, BSCL2, CAPN1, CATSPERZ, CBLIF, CCDC86, CCDC88B, CD5, CD6, CDC42BPG, CDCA5, CHRM1, COX8A, CPSF7, CSKMT, CYB561A3, DAGLA, DDB1, DNAJC4, DTX4, EEF1G, EHD1, EML3, ESRRA, FADS1, FADS2, FADS3, FAM111A, FAU, FEN1, FERMT3, FKBP2, FLRT1, FTH1, GANAB, GNG3, GPHA2, GPR137, HNRNPUL2, INCENP, INTS5, KCNK4, LBHD1, LGALS12, LRRC10B, LRRN4CL, MACROD1, MAJIN, MAP4K2, MARK2, MEN1, MIR192, MIR194-2, MPEG1, MRPL16, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MTA2, MYRF, NAA40, NAALADL1, NRXN2, NUDT22, NXF1, OOSP2, OR10V1, OR4D10, OR4D11, OR4D6, OR4D9, OR5A1, OR5A2, OR5AN1, OSBP, OTUB1, PATL1, PGA3, PGA4, PGA5, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, POLR2G, PPP1R14B, PPP2R5B, PRDX5, PRPF19, PTGDR2, PYGM, RAB3IL1, RASGRP2, RCOR2, ROM1, RPS6KA4, RTN3, SAC3D1, SAXO4, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SDHAF2, SF1, SLC15A3, SLC22A10, SLC22A11, SLC22A12, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC3A2, SNHG1, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SPDYC, SPINDOC, STIP1, STX3, STX5, SYT7, SYVN1, TAF6L, TCN1, TKFC, TM7SF2, TMEM109, TMEM132A, TMEM138, TMEM179B, TMEM216, TMEM223, TMEM258, TRMT112, TRPT1, TTC9C, TUT1, UBXN1, UQCC3, VEGFB, VPS37C, VPS51, VWCE, WDR74, ZBTB3, ZFPL1, ZFTA, ZNHIT2, ZP1 0 0 1 0 0 0 0 0 0 1
AMER1, ARHGEF9, ARHGEF9-IT1, ASB12, LAS1L, LINC01278, LOC113875034, LOC121627974, LOC121853058, LOC128031833, LOC130068356, LOC130068357, LOC130068358, LOC130068359, LOC130068360, LOC130068361, LOC130068362, LOC130068363, LOC130068364, LOC130068365, LOC130068366, LOC130068367, LOC130068368, LOC130068369, LOC130068370, LOC130068371, LOC130068372, LOC130068373, LOC130068374, MIR1468, MTMR8, NLRP2B, SPIN4, ZC3H12B, ZC4H2, ZXDA, ZXDB 1 0 0 0 0 0 0 0 0 1
AMER1, ARHGEF9, ASB12, MTMR8 1 0 0 0 0 0 0 0 0 1
AMER1, LOC130068366, LOC130068367 1 0 0 0 0 0 0 0 0 1
AMER1, LOC130068367, LOC130068368 1 0 0 0 0 0 0 0 0 1
ANXA13, ATAD2, C8orf76, CCN3, COL14A1, COLEC10, DEPTOR, DERL1, DSCC1, ENPP2, EXT1, FAM83A, FAM91A1, FBXO32, FER1L6, HAS2, KLHL38, MAL2, MED30, MRPL13, MTBP, MTSS1, NDUFB9, NSMCE2, NTAQ1, RNF139, SAMD12, SLC30A8, SNTB1, SQLE, TAF2, TATDN1, TBC1D31, TMEM65, TNFRSF11B, TRIB1, TRMT12, WASHC5, ZHX1, ZHX1-C8orf76, ZHX2, ZNF572 1 0 0 0 0 0 0 0 0 1
CA1 0 0 1 0 0 0 0 0 0 1
CBLL2, LOC126863223, LOC126863224, LOC126863225, LOC126863226, PHEX, PTCHD1 1 0 0 0 0 0 0 0 0 1
CCN3, COL14A1, COLEC10, DEPTOR, DSCC1, ENPP2, EXT1, MAL2, MRPL13, MTBP, SAMD12, SNTB1, TAF2, TNFRSF11B 1 0 0 0 0 0 0 0 0 1
CLCNKB, LOC106501713 0 1 0 0 0 0 0 0 0 1
COLEC10, TNFRSF11B 1 0 0 0 0 0 0 0 0 1
CTNNB1 0 0 1 0 0 0 0 0 0 1
CYP2R1, LOC130005371, PDE3B 0 0 0 1 0 0 0 0 0 1
CYP3A4 1 0 0 0 0 0 0 0 0 1
DOCK6 0 1 0 0 0 0 0 0 0 1
EXT1, LOC124188206 1 0 0 0 0 0 0 0 0 1
EXT2, LOC130005600, LOC130005601 1 0 0 0 0 0 0 0 0 1
G6PD, IKBKG, LOC108281126 0 0 1 0 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 0 0 1
HADHB 0 0 1 0 0 0 0 0 0 1
HRAS, LRRC56 0 0 1 0 0 0 0 0 0 1
IFITM5, PGGHG 1 0 0 0 0 0 0 0 0 1
LEMD3, LOC130008224 1 0 0 0 0 0 0 0 0 1
LOC129931343, POLR3GL 0 1 0 0 0 0 0 0 0 1
LOC129998145, LOC129998146, LOC129998147, SNX10 0 0 1 0 0 0 0 0 0 1
LOC130059892, SERPINF1 0 0 1 0 0 0 0 0 0 1
LTC4S, MGAT4B, SQSTM1 0 0 1 0 0 0 0 0 0 1
OPA1 0 0 1 0 0 0 0 0 0 1
PHYH 0 0 0 0 1 0 0 0 0 1
PLA2G6 0 1 0 0 0 0 0 0 0 1
POLR3GL 0 1 0 0 0 0 0 0 0 1
PRSS1, TRB 1 0 0 0 0 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 0 0 1
SAMD12, TNFRSF11B 1 0 0 0 0 0 0 0 0 1
SERPINF1 0 0 1 0 0 0 0 0 0 1
SLC29A3 1 0 0 0 0 0 0 0 0 1
SRC 0 1 0 0 0 0 0 0 0 1
WDR72 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 149
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 525 39 1403 1223 175 0 0 0 0 3365
Illumina Laboratory Services, Illumina 5 4 1148 205 454 0 0 0 0 1805
Fulgent Genetics, Fulgent Genetics 59 34 479 273 21 0 0 0 0 866
Baylor Genetics 66 113 113 0 0 0 0 0 0 292
OMIM 203 0 0 0 0 3 0 3 0 209
Natera, Inc. 12 4 101 24 16 0 0 0 0 157
Mendelics 101 28 8 5 6 0 0 0 0 148
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 130 3 1 0 0 0 0 0 0 134
Genome-Nilou Lab 2 17 11 2 83 0 0 0 0 115
Counsyl 8 62 33 1 0 0 0 0 0 104
Revvity Omics, Revvity 13 9 35 0 0 0 0 0 0 57
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 15 22 15 1 0 0 0 0 0 53
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 25 1 1 0 0 0 0 0 49
3billion 19 14 9 4 0 0 0 0 0 46
Neuberg Centre For Genomic Medicine, NCGM 7 19 17 0 0 0 0 0 0 43
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 23 13 2 0 0 0 0 0 0 38
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 7 5 21 0 0 0 0 35
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 23 5 2 0 0 0 0 0 0 30
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 2 24 0 0 0 0 0 0 27
Myriad Genetics, Inc. 1 25 1 0 0 0 0 0 0 27
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 9 16 0 0 0 0 25
Molecular Lab, Department of Haematology, Christian Medical College 18 4 2 0 0 0 0 0 0 24
Institute of Human Genetics, University of Leipzig Medical Center 8 7 4 2 0 0 0 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 10 4 0 0 0 0 20
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 6 5 9 0 0 0 0 0 0 20
GeneReviews 1 0 0 0 0 0 0 0 18 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 2 3 0 0 0 0 0 0 17
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 4 7 0 2 0 0 0 0 16
MVZ Medizinische Genetik Mainz 3 3 8 0 0 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 8 0 1 0 0 0 0 11
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 9 2 0 0 0 0 0 0 0 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 5 0 0 0 0 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 5 0 0 0 0 0 0 10
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 5 2 3 0 0 0 0 0 0 10
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 4 2 4 0 0 0 0 0 0 10
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 7 1 0 0 0 0 0 0 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 3 1 0 0 0 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 9 9
MGZ Medical Genetics Center 2 5 1 0 0 0 0 0 0 8
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 7 1 0 0 0 0 0 0 0 8
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 2 0 6 0 0 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 4 0 0 0 0 0 0 8
Genomenon, Inc, Genomenon, Inc 8 0 0 0 0 0 0 0 0 8
Hadassah Hebrew University Medical Center 0 7 0 0 0 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 2 0 0 0 0 7
Institute of Human Genetics, Cologne University 1 3 2 0 0 0 0 0 0 6
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 1 2 3 0 0 0 0 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 2 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 5 0 1 0 0 0 0 0 0 6
Women's and Children's Health, University of Otago 6 0 0 0 0 0 0 0 0 6
Lifecell International Pvt. Ltd 2 4 0 0 0 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 0 0 0 0 5
Hereditary Research Laboratory, Bethlehem University 4 0 1 0 0 0 0 0 0 5
Undiagnosed Diseases Network, NIH 2 2 1 0 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 5 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 4 0 0 0 0 5
DASA 2 3 0 0 0 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 0 0 4 0 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 0 2 0 0 0 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 2 0 0 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 2 2 0 0 0 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 2 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 4 0 0 0 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 2 0 0 0 0 0 0 0 4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 0 0 0 0 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 1 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 4 0 0 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 2 1 1 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 0 1 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 0 0 0 0 3
Breda Genetics srl 2 1 0 0 0 0 0 0 0 3
MNM Diagnostics 3 0 0 0 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 1 1 1 0 0 0 0 0 0 3
Dr.Nikuei Genetic Center 2 0 0 1 0 0 0 0 0 3
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 2 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 0 0 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 0 0 0 2
American University of Beirut, Same Uiversity Hospital 2 0 0 0 0 0 0 0 0 2
Human Genetics Unit, University Of Colombo 1 0 1 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 1 0 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 2 0 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 0 0 0 2
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 2 0 0 0 0 0 0 0 2
Department of Cell Biology, School of Life Sciences, Central South University 2 0 0 0 0 0 0 0 0 2
Suma Genomics, Suma Genomics 2 0 0 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 1 0 0 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 1 0 0 0 0 0 0 2
Guangxi Key laboratory of Metabolic Diseases Research; Guilin 181st Hospital 0 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 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
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 0 0 0 0 1
Center for Molecular Medicine, Karolinska Institute 0 1 0 0 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University 1 0 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 1 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 0 0 0 1
Bioinformatics Research Center, Pavlov First St. Petersburg State Medical University 0 1 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 0 0 0 1
Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University 1 0 0 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 0 0 1
Koker Lab, University of Erciyes Medical School 1 0 0 0 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 0 0 0 1
NIDO Danmark, Gødstrup Hospital 0 1 0 0 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 0 1
Endocrinology, CHU de Quebec-Université Laval 0 1 0 0 0 0 0 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 1 0 0 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 1 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 0 0 0 1
Laboratory of Medical and Molecular Genetics, The National Medical Research Center for Endocrinology 0 1 0 0 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 0 0 1
Mashhad Undiagnosed Diseases Center, Mashhad University Of Medical Sciences 0 1 0 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 0 1 0 0 1
Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine 0 1 0 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 0 1
Neurogenetics, Research Centre for Medical Genetics 0 0 0 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 0 0 1
Unidad De Genómica, Hospital Infantil Universitario Niño Jesús 0 1 0 0 0 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 0 0 0 0 1
Genos 1 0 0 0 0 0 0 0 0 1

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