ClinVar Miner

Variants studied for ciliopathy

Included ClinVar conditions (210):
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
3270 1558 12940 5597 2292 7 23707

Gene and significance breakdown #

Total genes and gene combinations: 243
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALMS1 237 155 892 564 97 2 1862
DNAH5 271 87 815 590 126 0 1683
DNAH11 103 36 771 248 144 0 1178
CEP290 219 58 392 283 43 0 916
DNAH1 15 3 388 169 99 0 672
EVC 64 64 264 212 81 0 612
DNAH8 29 11 338 150 72 0 599
DYNC2H1 99 141 312 90 86 0 588
RPGRIP1L 90 27 301 154 29 0 544
EVC2 78 64 141 231 72 0 523
CC2D2A 76 47 294 99 28 0 475
AHI1 77 18 232 78 37 0 415
IFT140 25 6 280 102 30 0 415
CEP164 10 4 240 78 24 0 355
BBS10 73 75 160 76 17 0 351
BBS2 55 62 158 102 23 0 350
CCDC40 35 13 222 68 50 0 350
IFT172 18 7 232 66 15 0 334
CPLANE1 74 23 180 38 51 0 330
MKS1 51 43 170 101 13 0 329
WDR19 31 22 214 73 21 0 327
BBS9 34 5 183 57 40 0 297
DNAI1 33 29 131 116 14 0 284
BBS12 55 31 134 69 29 0 275
INPP5E 26 6 172 56 33 0 274
DNAI2 34 10 122 119 33 0 271
ASTN2, TRIM32 17 2 190 47 9 0 256
OFD1 142 13 51 16 29 0 248
IFT80, TRIM59-IFT80 16 10 167 44 17 0 233
WDR35 15 10 140 41 40 0 231
BBS1, ZDHHC24 42 32 110 56 14 1 229
DNAAF1 21 2 152 42 36 0 226
TTC21B 11 14 145 38 38 0 220
CEP41 7 1 161 35 20 0 219
CSPP1 35 6 126 41 10 0 217
WDPCP 9 4 158 46 15 0 215
TMEM67 61 49 99 25 17 0 213
BBS4 32 15 103 34 28 0 198
TMEM237 12 5 133 42 13 0 196
DNAAF2 14 3 129 42 21 0 188
IFT140, LOC105371046 17 10 125 28 16 0 186
CCDC39 45 8 97 40 14 0 183
NEK1 22 13 102 34 29 0 176
ODAD2 17 8 98 37 18 0 175
BBS7 27 13 110 18 15 0 174
NPHP4 5 2 115 19 33 0 174
SDCCAG8 18 10 111 30 11 0 171
MKKS 27 6 100 22 18 0 163
ODAD1 9 3 89 36 27 0 163
DNAAF5 9 2 84 42 18 0 153
SPAG1 26 4 89 23 15 0 153
RSPH4A 28 7 90 24 15 1 150
DRC1 14 2 86 32 15 0 148
BBS1 40 30 53 36 4 1 145
KIAA0586 31 11 52 23 26 0 141
TTC8 7 8 99 25 12 0 140
DNAAF3 19 4 73 34 7 0 134
NPHP3, NPHP3-ACAD11 7 1 91 11 5 0 115
TCTN2 19 4 72 17 21 0 114
TMEM216 10 17 63 28 13 0 107
ARL13B 10 3 67 25 6 0 105
GAS8 7 2 59 21 12 0 100
NME8 5 0 60 25 12 0 100
DNAAF11 17 3 61 20 7 0 97
RSPH1 16 3 44 25 10 0 94
ODAD3 7 5 51 16 11 0 89
RSPH3 11 0 56 12 7 0 86
TCTN1 10 1 47 27 10 0 86
CCDC39, TTC14 9 1 60 5 14 0 85
BBS5 21 8 34 11 10 0 84
TMEM231 10 4 37 21 12 0 81
CCNO 17 5 37 15 5 0 78
RPGR 6 2 28 14 26 0 76
ZMYND10 8 2 47 10 9 0 75
CCDC65 4 1 49 10 11 0 74
DYNC2I1 8 8 24 17 19 0 73
CEP120 12 1 37 13 10 0 72
ARL6 14 4 33 12 4 0 66
NPHP1 12 0 45 6 5 0 65
CDCA7L, DNAH11 6 4 38 15 5 0 62
IQCB1 13 1 35 4 9 0 62
CCDC103 4 3 46 8 3 0 59
DYNC2I2 16 9 16 10 11 0 57
ARFGEF1, CSPP1 4 1 38 9 5 0 56
DNAL1 5 1 37 10 3 0 55
CEP104 7 1 24 5 16 0 53
MCIDAS 6 1 22 18 5 0 52
IFT172, KRTCAP3 4 1 33 5 6 0 49
POLR1C, RSPH9 6 4 32 5 5 0 48
B9D1 8 3 27 9 7 0 47
TMEM138 6 2 36 3 4 0 47
DNAAF5, PRKAR1B 5 0 26 13 0 0 44
DNAAF4, DNAAF4-CCPG1 13 4 20 2 0 0 39
C12orf29, CEP290 12 1 20 6 1 0 38
TCTN3 3 1 14 11 9 0 38
CENPF 8 4 12 1 0 0 25
DNAH5, LOC107457585 3 0 12 8 1 0 23
CFAP298, CFAP298-TCP10L 5 0 13 2 1 0 21
B9D2 7 3 3 2 5 0 20
DNAAF3, TNNI3 0 0 1 8 9 0 17
DNAH9 9 1 7 0 0 0 17
HYDIN 4 2 10 0 1 0 17
ARMC9 10 11 3 0 0 0 16
CCDC40, GAA 0 0 2 7 10 0 16
PIBF1 9 4 4 0 0 0 14
DYNC2LI1 11 2 1 0 0 0 13
AKT3, SDCCAG8 0 1 10 2 1 0 12
TRAF3IP1 10 4 2 0 0 0 12
SUFU 2 0 9 0 0 0 11
TOGARAM1 10 8 1 0 0 0 11
ATP6V0A2, TCTN2 0 0 1 5 8 0 10
PDE6D 2 2 2 4 1 0 10
CCDC103, FAM187A, GFAP 0 0 9 0 0 0 9
CCDC103, GFAP 0 0 1 7 0 0 8
IFT81 3 4 3 0 0 0 8
KIF14 2 1 5 0 0 0 8
CYB561A3, TMEM138 0 0 6 1 0 0 7
DNAAF1, TAF1C 2 0 2 1 2 0 7
IFT52 6 1 1 0 0 0 7
IFT74 2 5 3 0 0 1 7
PIEZO2 2 0 5 0 0 0 7
CFAP300 6 0 0 0 0 0 6
DNAAF2, MGAT2 0 0 0 2 4 0 6
DNAAF6 4 0 1 0 1 0 6
EVC, EVC2 1 0 1 4 3 0 6
KATNIP 2 4 1 0 0 0 6
BBS4, HIGD2B 0 0 2 0 3 0 5
CFAP418 2 2 1 0 0 0 5
DNAJB13 2 0 1 1 0 1 5
INTU 3 5 2 0 0 0 5
LZTFL1 3 1 1 0 0 0 5
ODAD4 3 0 2 0 0 0 5
C2CD3 3 0 2 0 0 0 4
CPLANE1, LOC105374727 0 0 3 1 0 0 4
FOXJ1 4 0 0 0 0 0 4
IFT43 2 2 2 0 0 0 4
KIAA0753 3 1 0 0 0 0 4
LRRC56 4 0 0 0 0 0 4
NEK10 4 0 0 0 0 0 4
TMEM218 4 0 0 0 0 0 4
TTC12 4 0 0 0 0 0 4
​intergenic 2 0 0 0 1 0 3
BBIP1 2 0 1 0 0 0 3
DYNLT2B 2 1 0 0 0 0 3
PIK3C2A 3 1 0 0 0 0 3
TMEM107 3 0 0 0 0 0 3
TXNDC15 1 2 0 0 0 0 3
AGPAT3, CBS, CRYAA, CSTB, GATD3A, HSF2BP, NDUFV3, PDE9A, PDXK, PKNOX1, PWP2, RRP1, RRP1B, RSPH1, SIK1, SLC37A1, TRAPPC10, U2AF1, WDR4 1 0 1 0 0 0 2
ARL3 2 0 0 0 0 0 2
ARL6, EPHA6 1 0 1 0 0 0 2
BBS9, RP9 0 0 2 0 0 0 2
CBY1 2 0 0 0 0 0 2
CCDC40, MIR1268B 0 0 2 0 0 0 2
CLUAP1 0 2 0 0 0 0 2
DNAAF4 2 0 0 0 0 0 2
DNAH9, ZNF18 0 1 1 0 0 0 2
DYNC2I2, SPTAN1 1 0 1 0 0 0 2
DYNLT2B, TM4SF19-DYNLT2B 2 0 0 0 0 0 2
FAM149B1 2 1 0 0 0 0 2
FUZ 1 2 1 0 0 0 2
IFT27 1 0 1 0 0 0 2
IFT27, LOC105373021 2 0 0 0 0 0 2
IFT80 1 0 1 0 0 0 2
LBR 2 2 0 0 0 0 2
OTC, RPGR 1 0 1 0 0 0 2
TMEM17 0 0 2 0 0 0 2
USH2A 0 0 2 0 0 0 2
ABCA4 0 0 1 0 0 0 1
ABCG5, DYNC2LI1 1 0 0 0 0 0 1
ADD1, ADRA2C, CYTL1, DOK7, EVC2, FAM193A, GRK4, HAUS3, HGFAC, HTT, LINC01587, LRPAP1, LYAR, MFSD10, MSANTD1, MSX1, MXD4, NOP14, NSG1, OTOP1, POLN, RGS12, RNF4, SH3BP2, STK32B, STX18, TMEM128, TNIP2, ZBTB49, ZFYVE28 1 0 0 0 0 0 1
AGPAT2, C9orf163, EGFL7, ENTR1, INPP5E, MIR126, NOTCH1, PMPCA, SEC16A 0 0 1 0 0 0 1
AK7 0 0 1 0 0 0 1
AKT3, CEP170, LINC01347, LOC110120698, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 0 1
ALDH6A1, BBOF1, COQ6, DNAL1, ENTPD5, FAM161B, LIN52, LINC02274, LOC100506476, LOC111822947, MIDEAS, MIR4505, PNMA1, PTGR2, VSX2, ZNF410 0 0 1 0 0 0 1
ALMS1, CCT7, EGR4, EMX1, FBXO41, NOTO, PRADC1, RAB11FIP5, SFXN5, SMYD5, SPR 0 0 1 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 1
ARL13B, DHFR2 0 0 1 0 0 0 1
ARL13B, DHFR2, NSUN3, PROS1, STX19 0 0 1 0 0 0 1
ARL13B, PROS1, STX19 0 0 1 0 0 0 1
ARL6, CRYBG3 0 1 0 0 0 0 1
BBS1, DPP3, ZDHHC24 0 1 0 0 0 0 1
C12orf29, C12orf50, CEP290, KITLG, TMTC3 1 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 1
C2CD6, MPP4, TMEM237 1 0 0 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 1
CAV3 0 0 1 0 0 0 1
CBS, CRYAA, ERVH48-1, FRGCA, LINC01668, LINC01671, LOC101928212, LOC101930094, LOC110121500, MIR5692B, NDUFV3, PDE9A, PKNOX1, RSPH1, SLC37A1, U2AF1, WDR4 0 0 1 0 0 0 1
CCDC172 0 0 1 0 0 0 1
CCDC28B 0 0 1 0 0 0 1
CEP19 1 0 0 0 0 0 1
CEP295 0 0 1 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 1
COQ8A 0 0 0 0 1 0 1
CRYGD, LOC100507443 0 0 0 1 0 0 1
CYBB, DYNLT3, H2AP, RPGR, SRPX, SYTL5, XK 0 0 1 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 0 0 1 0 1
DUOX2 0 0 0 1 0 0 1
EHBP1, MDH1, OTX1, PELI1, UGP2, VPS54, WDPCP 0 0 1 0 0 0 1
EML5, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 1
EXOC3L2 0 1 0 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 0 1
EXOC8 0 0 1 0 0 0 1
FAM166B 0 0 1 0 0 0 1
FAM98C 0 1 0 0 0 0 1
FLVCR1 0 1 0 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 1
GAS2L2 1 1 0 0 0 0 1
GH-LCR, SCN4A 0 0 0 1 0 0 1
GLI1 0 0 1 0 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 1
IFT140, PTX4, TELO2 0 0 1 0 0 0 1
IFT140, TELO2 1 0 0 0 0 0 1
IFT140, TMEM204 0 0 1 0 0 0 1
IFT88 0 1 1 0 0 0 1
INPP5E, SEC16A 0 0 1 0 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 1
KIF7 0 0 1 0 0 0 1
LOC112939934, WDR19 0 0 1 0 0 0 1
LRRC34 0 0 1 0 0 0 1
MALL, MTLN, NPHP1 1 0 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
MATN3, WDR35 0 0 0 0 1 0 1
MICALL2 1 0 0 0 0 0 1
NEK4 0 1 0 0 0 0 1
PDE11A 0 0 0 1 0 0 1
PDPR 0 0 0 1 0 0 1
PKD2 0 0 0 0 1 0 1
POLR2K, SPAG1 1 0 0 0 0 0 1
PTCD3 1 0 0 0 0 0 1
RAG1 0 0 1 0 0 0 1
RCOR1 0 1 0 0 0 0 1
RPE65 0 0 0 0 1 0 1
RPGRIP1 0 0 1 0 0 0 1
SLC30A7 1 0 0 0 0 0 1
SLTM 0 1 0 0 0 0 1
SMAD6 0 0 1 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 1
SOS1 0 0 0 0 1 0 1
SPEF2 1 0 0 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 0 1
TRAPPC3 0 1 0 0 0 0 1
TRIM32 0 0 1 0 0 0 1
TTC6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 135
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1987 439 8057 4805 1816 0 17102
Illumina Clinical Services Laboratory,Illumina 10 12 4164 611 839 0 5523
Counsyl 58 390 604 182 11 0 1245
Natera, Inc. 62 10 582 146 235 0 1035
OMIM 603 0 8 0 0 0 611
Baylor Genetics 83 18 238 0 0 0 339
UW Hindbrain Malformation Research Program,University of Washington 277 13 0 0 0 0 290
University of Washington Center for Mendelian Genomics, University of Washington 1 238 1 0 0 0 240
GeneReviews 217 0 0 0 22 0 239
Fulgent Genetics,Fulgent Genetics 48 11 135 0 0 0 194
Dan Cohn Lab,University Of California Los Angeles 119 8 18 0 0 0 145
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 10 34 96 4 0 0 144
Mendelics 35 13 10 5 33 0 96
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 1 2 24 68 0 96
Centre for Mendelian Genomics,University Medical Centre Ljubljana 34 20 29 2 0 0 85
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 82 0 0 0 0 83
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 29 35 9 2 0 0 75
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 4 70 0 75
Genetic Services Laboratory, University of Chicago 45 16 9 0 0 0 70
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 17 14 33 0 65
Laboratory of Medical Genetics, INSERM 65 0 0 0 0 0 65
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 25 30 1 0 0 0 56
Integrated Genetics/Laboratory Corporation of America 33 21 0 1 1 0 56
Broad Institute Rare Disease Group, Broad Institute 9 14 21 4 4 0 52
Genomic Research Center, Shahid Beheshti University of Medical Sciences 13 6 26 2 1 0 48
Rare Disease Group, Clinical Genetics,Karolinska Institutet 15 8 21 0 0 0 44
Genome Diagnostics Laboratory,University Medical Center Utrecht 3 0 0 5 33 0 41
Johns Hopkins Genomics, Johns Hopkins University 13 6 15 4 1 0 39
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 9 22 7 0 0 0 38
Institute of Human Genetics, Klinikum rechts der Isar 20 7 0 0 0 0 27
Myriad Women's Health, Inc. 6 18 0 0 0 0 24
Laboratory of Genetics in Ophthalmology,Institut Imagine 24 0 0 0 0 0 24
Biology Pathology Center,Lille University Hospital 20 3 0 0 0 0 23
Institute of Human Genetics, University of Leipzig Medical Center 9 2 10 2 0 0 23
SIB Swiss Institute of Bioinformatics 1 13 6 0 3 0 23
Ocular Genomics Institute, Massachusetts Eye and Ear 6 5 9 0 1 0 21
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 11 6 2 0 0 0 19
Mayo Clinic Laboratories, Mayo Clinic 2 0 15 1 0 0 18
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 11 3 4 0 0 0 18
Human Genetics - Radboudumc,Radboudumc 11 1 5 0 0 0 17
Sharon lab,Hadassah-Hebrew University Medical Center 10 7 0 0 0 0 17
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 13 0 17
Center for Human Disease Modeling,Duke University Medical Center 1 15 0 0 0 0 16
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 9 6 0 0 0 0 15
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 9 3 3 0 0 0 15
Molecular Biology Laboratory, Fundació Puigvert 10 5 0 0 0 0 15
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 5 7 2 0 0 0 14
Knight Diagnostic Laboratories, Oregon Health and Sciences University 6 5 2 1 0 0 14
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 14 0 0 0 0 0 14
Centre for Genomic and Experimental Medicine,University of Edinburgh 11 2 0 0 0 0 13
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 7 6 0 0 0 0 13
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 6 9 0 0 0 0 13
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 4 6 2 0 0 0 12
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 5 0 0 0 0 12
Molecular Genetics Laboratory,Institute for Ophthalmic Research 11 0 0 0 0 0 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 3 3 0 0 0 10
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 7 3 0 0 0 10
Sydney Genome Diagnostics,Children's Hospital Westmead 4 4 2 0 0 0 10
Department of Medical Genetics, Faculty of Medicine,Ege University 9 0 0 0 0 0 9
Hadassah Hebrew University Medical Center 0 9 0 0 0 0 9
Kasturba Medical College, Manipal University 2 6 1 0 0 0 9
Undiagnosed Diseases Network,NIH 4 2 2 0 0 0 8
Athena Diagnostics Inc 0 0 0 0 7 0 7
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 1 0 0 0 7
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 1 3 3 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 5 0 0 0 0 6
Institute of Medical Genetics,University of Zurich 4 2 0 0 0 0 6
Tolun Lab, Human Genetics Laboratory,Bogazici University 1 0 5 0 0 0 6
Genomic Medicine Lab, University of California San Francisco 3 2 1 0 0 0 6
Nilou-Genome Lab 1 0 1 2 2 0 6
Centogene AG - the Rare Disease Company 2 3 0 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 2 2 1 0 0 0 5
David Geffen School of Medicine,University of California, Los Angeles 5 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 3 0 0 0 0 5
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 5 0 0 0 0 0 5
Phosphorus, Inc. 0 1 3 0 1 0 5
Reproductive Health Research and Development,BGI Genomics 1 0 3 1 0 0 5
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 0 0 0 0 0 4
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 1 0 3 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 0 0 0 0 4
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 2 2 0 0 0 0 4
Molecular and Clinical Genetics,Institute of Human Genetics P.A.S. 4 0 0 0 0 0 4
Department of Neurology,Kindai University 4 0 0 0 0 0 4
New York Genome Center 0 2 2 0 0 0 4
Pars Genome Lab 0 0 1 3 0 0 4
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 4 0 0 0 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 3 0 0 0 0 3
Molecular Diagnostics Laboratory,Seoul National University Hospital 3 0 0 0 0 0 3
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 2 0 0 0 0 3
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 3 0 0 0 0 3
Ege University Pediatric Genetics,Ege University 1 0 2 0 0 0 3
Yale Center for Mendelian Genomics,Yale University 0 3 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 1 0 0 0 3
Institute of Reproductive and Stem Cell Engineering,Central South University 3 0 0 0 0 0 3
Cancer Diagnostics Division,Gene Solutions 2 1 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 2 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Universitätsklinikum Salzburg,Universitätskinderklinik 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 1 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
Institute of Human Genetics,Heidelberg University 2 0 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 1 0 0 0 2
Fundación para la Investigación Sanitaria y Biomédica de la Comunidad Valenciana,FISABIO Oftalmología Médica 2 0 0 0 0 0 2
Rare Diseases Lab,University of Vigo 2 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences 1 0 0 0 0 0 1
Pediatrics Research Institute,Children's Hospital of Fudan University 1 0 0 0 0 0 1
Columbia University Medical Center,Columbia University 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 0 1
InterGenetics 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
College of Medicine Research Centre,King Saud Univeristy 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Heon Lab,The Hospital for Sick Children 1 0 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
Research Unit of Respiratory Disease,The Second Xiangya Hospital of Central South University 1 0 0 0 0 0 1
School of Computer Science,University of Waterloo 1 0 0 0 0 0 1

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