ClinVar Miner

Variants studied for eye degenerative disorder

Included ClinVar conditions (119):
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 affects risk factor other not provided total
1384 1172 4549 4832 1049 36 2 5 193 12224

Gene and significance breakdown #

Total genes and gene combinations: 125
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
DYNC1H1 35 61 1352 2137 166 0 0 0 9 3606
GALC 216 194 313 492 77 0 0 3 12 1163
HEXA 198 154 365 456 25 35 0 2 1 1088
CYP27A1 148 110 358 454 24 0 0 0 3 992
HEXB 132 98 155 372 21 0 0 0 1 706
CP 70 7 222 149 43 0 0 0 2 455
OPA3 8 4 210 131 79 0 0 0 4 432
LRP5 29 27 171 93 6 0 0 0 3 323
COL2A1 85 51 101 34 36 0 0 0 5 302
POLR3A 24 39 125 27 38 0 0 0 57 266
VCAN 9 2 92 85 140 0 0 0 11 255
COL11A1 15 36 132 37 34 0 0 0 5 252
NR2E3 26 62 132 37 16 0 0 0 0 250
ALDH3A2 46 84 74 17 19 0 0 0 2 215
OPA1 51 37 75 15 40 0 0 0 11 214
COL18A1 15 5 91 13 44 0 0 0 1 169
DYNC1H1, LOC126862060 1 2 50 82 4 0 0 0 0 134
FZD4, PRSS23 9 8 69 6 45 0 0 0 0 134
PEX7 20 52 56 6 8 0 0 0 9 134
COL18A1, SLC19A1 12 5 61 22 23 0 0 0 0 118
ATP1A3 10 12 10 11 50 0 0 0 0 89
PSAP 4 1 57 13 14 0 0 0 0 88
GALC, LOC130056217 14 17 16 32 3 0 0 0 1 72
TSPAN12 17 8 31 3 14 0 0 0 0 71
CDKL5, RS1 30 26 10 7 3 0 0 0 0 67
BEST1 7 4 18 8 15 0 0 0 0 52
LOC130064709, OPA3 1 1 14 19 3 0 0 0 1 38
CDH23, PSAP 0 0 3 21 11 0 0 0 0 35
ACO2 7 4 13 4 6 0 0 0 1 33
CP, HPS3 0 1 13 11 6 0 0 0 0 29
COL9A1 4 3 18 3 0 0 0 0 1 28
COL9A2 2 2 14 3 1 0 0 0 2 23
BEST1, FTH1 1 0 2 13 6 0 0 0 0 22
RS1 4 8 3 1 3 0 0 0 0 18
ACO2, POLR3H 9 4 7 0 0 0 0 0 0 16
MT-ND5 11 2 2 0 0 0 0 0 5 16
DNM1L 5 2 2 2 4 0 0 0 0 15
ZNF408 2 3 8 0 0 0 0 0 1 14
PEX5 1 3 6 0 3 0 0 0 0 13
FZD4 2 0 3 3 4 0 0 0 2 12
LOC126860971, POLR3A 1 1 7 0 1 0 0 0 4 12
MT-ND1 9 2 1 0 0 0 0 0 9 12
MT-ND6 6 0 1 0 0 0 1 0 9 12
COL9A3 7 0 4 0 0 0 0 0 0 11
DYNC1H1, LOC130056502 0 1 7 3 0 0 0 0 0 11
MT-ATP6 8 3 2 0 0 0 0 0 2 11
ISCA2 3 1 6 0 0 0 0 0 3 10
NDP 5 4 1 0 0 0 0 0 0 10
BNAT1, COL18A1 1 0 7 1 0 0 0 0 0 8
CTNNB1 3 1 2 2 0 0 0 0 0 8
GFM2, HEXB 1 0 5 2 1 0 0 0 0 8
LOC126860970, POLR3A 2 0 4 0 1 0 0 0 1 8
MT-CYB 4 0 3 0 0 0 0 0 2 8
POLR3B 1 2 1 1 3 0 0 0 0 8
LOC126806913, OPA1 3 1 2 0 1 0 0 0 0 7
​intergenic 6 0 0 0 0 0 0 0 0 6
CAPN5 4 0 1 1 0 0 0 0 1 6
COL11A1, LOC126805814 0 0 6 0 0 0 0 0 0 6
CTNNB1, LOC126806659 4 0 1 1 0 0 0 0 0 6
DYNC1H1, LOC125078040 0 0 4 0 2 0 0 0 0 6
MT-ND4 3 0 1 0 0 0 0 0 3 5
ATP1A3, LOC130064543 0 0 3 0 1 0 0 0 0 4
FZD4, LOC130006562 0 0 3 0 1 0 0 0 0 4
CTNNB1, LOC126806658 1 1 0 1 0 0 0 0 0 3
HEXB, LOC129994060, LOC129994061, LOC129994062 3 0 0 0 0 0 0 0 0 3
MT-CO3 3 0 0 0 0 0 0 0 1 3
MT-ND2 2 0 1 0 0 0 0 0 2 3
PAK2 1 2 0 0 0 0 0 0 0 3
ABCA4 2 0 0 0 0 0 0 0 0 2
CDH23 0 0 2 0 0 0 0 0 0 2
DNM1L, YARS2 0 0 0 0 2 0 0 0 0 2
GIGYF2, KCNJ13 1 1 1 0 0 0 0 0 0 2
LOC130004143, POLR3A, RPS24 0 0 2 0 0 0 0 0 1 2
LOC130005659, ZNF408 0 0 2 0 0 0 0 0 0 2
MT-ND3 1 0 0 0 0 0 0 0 1 2
ACO2, LOC130067544 0 1 0 0 0 0 0 0 0 1
ADAMTS18 0 0 1 0 0 0 0 0 0 1
ADPGK, ARIH1, BBS4, CD276, CELF6, GOLGA6B, GRAMD2A, HCN4, HEXA, INSYN1, LOXL1, MYO9A, NEO1, NPTN, NR2E3, PARP6, PKM, REC114, SENP8, TBC1D21, TMEM202 1 0 0 0 0 0 0 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202 0 0 1 0 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 0 1
AGTR1, ANKUB1, COMMD2, CP, CPA3, CPB1, GYG1, HLTF, HPS3, RNF13, TM4SF1, TM4SF18, TM4SF4, WWTR1 1 0 0 0 0 0 0 0 0 1
ALDH3A2, LOC130060466 0 0 1 0 0 0 0 0 0 1
ALDH3A2, LOC130060467 1 0 0 0 0 0 0 0 0 1
ALMS1 0 1 0 0 0 0 0 0 0 1
AMN, ANKRD9, CINP, DYNC1H1, HSP90AA1, MOK, RCOR1, TECPR2, TRAF3, WDR20, ZNF839 0 0 1 0 0 0 0 0 0 1
ANKDD1B, ANKRD31, CERT1, FAM169A, GCNT4, GFM2, HEXB, HMGCR, NSA2, POC5, POLK 0 0 1 0 0 0 0 0 0 1
ATP13A3, CPN2, FAM43A, GP5, HES1, LRRC15, LSG1, OPA1, TMEM44 0 1 0 0 0 0 0 0 0 1
C10orf105, CDH23 0 0 1 0 0 0 0 0 0 1
CCDC81, CCDC83, CCDC89, CREBZF, DLG2, EED, FZD4, HIKESHI, ME3, PICALM, PRSS23, SYTL2, TMEM126A, TMEM126B, TMEM135 1 0 0 0 0 0 0 0 0 1
COL11A1, RNPC3 0 1 0 0 0 0 0 0 0 1
COL1A1 1 0 0 0 0 0 0 0 0 1
COL4A3, MFF-DT 0 0 1 0 0 0 0 0 0 1
COL9A1, LOC129996692 0 0 0 0 0 0 0 0 1 1
COL9A3, LOC126863084 1 0 0 0 0 0 0 0 0 1
CYP27A1, PRKAG3, WNT6 1 0 0 0 0 0 0 0 0 1
DNAJC30, LOC129998603 1 0 0 0 0 0 0 0 0 1
DYNC1H1, LOC130056499, LOC130056500, PPP2R5C 0 0 1 0 0 0 0 0 0 1
DYNC1H1, PPP2R5C 0 0 1 0 0 0 0 0 0 1
ENC1, HEXB, LOC123497911, LOC129994057, LOC129994058, LOC129994059, LOC129994060, LOC129994061, LOC129994062 1 0 0 0 0 0 0 0 0 1
FZD4, LOC130006561 0 0 0 0 1 0 0 0 0 1
GALC, LOC132090288 0 1 0 0 0 0 0 0 0 1
GALC, LOC132090289 0 0 0 0 1 0 0 0 0 1
GALC, SPATA7 0 1 0 0 0 0 0 0 0 1
GM2A 1 0 0 0 0 0 0 0 0 1
HEXA, LOC130057475 1 1 0 0 0 1 0 0 0 1
HIVEP2 0 0 1 0 0 0 0 0 0 1
KIF11 0 0 0 0 0 0 0 0 1 1
KRT14 0 1 0 0 0 0 0 0 0 1
LOXHD1 0 0 0 1 0 0 0 0 0 1
LOXL3 1 0 0 0 0 0 0 0 0 1
LRRC32 0 1 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 1 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 1 1 0 0 0 0 0 0 0 1
MT-ATP6, MT-CO3 1 0 0 0 0 0 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 0 0 0 0 1
MT-ND4L 1 0 0 0 0 0 0 0 1 1
MT-ND5, MT-ND6 1 0 0 0 0 0 0 0 1 1
MT-TL1 0 0 1 0 0 0 0 0 0 1
NDUFS2 0 1 0 0 0 0 0 0 0 1
NRL 1 0 0 0 0 0 0 0 0 1
PRICKLE3 0 0 0 0 0 0 1 0 0 1
RCBTB1 0 1 0 0 0 0 0 0 0 1
RP1 0 0 1 0 0 0 0 0 0 1
SETX 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 222
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 677 163 2354 4224 304 0 0 5 0 7727
Illumina Laboratory Services, Illumina 13 11 1258 363 629 0 0 0 0 2202
Fulgent Genetics, Fulgent Genetics 75 27 307 177 22 0 0 0 0 608
Natera, Inc. 119 27 280 86 75 0 0 0 0 587
Counsyl 24 260 194 44 1 0 0 0 0 523
Baylor Genetics 127 130 58 0 0 0 0 0 0 315
OMIM 263 0 3 0 0 36 1 0 0 303
GeneReviews 97 0 3 0 3 0 0 0 149 252
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 153 83 0 0 0 0 0 0 1 237
Genome-Nilou Lab 1 3 11 7 206 0 0 0 0 228
Myriad Genetics, Inc. 23 119 3 0 0 0 0 0 0 145
Mendelics 65 31 9 9 17 0 0 0 0 131
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 47 16 34 3 0 0 0 0 0 100
3billion 33 27 26 3 0 0 0 0 0 89
Neuberg Centre For Genomic Medicine, NCGM 16 16 40 0 0 0 0 0 0 72
Institute of Human Genetics, University of Leipzig Medical Center 25 11 27 5 0 0 0 0 0 68
Revvity Omics, Revvity 35 12 17 0 0 0 0 0 0 64
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 42 16 5 0 0 0 0 0 0 63
Juno Genomics, Hangzhou Juno Genomics, Inc 20 17 18 0 0 0 0 0 0 55
MGZ Medical Genetics Center 16 15 20 1 0 0 0 0 0 52
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 12 15 21 1 0 0 0 0 0 49
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 11 13 15 1 4 0 0 0 0 44
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 11 20 1 1 0 0 0 0 38
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 8 9 15 0 0 0 0 0 0 32
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 31 0 0 0 0 0 0 31
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 5 21 0 0 0 0 29
Genomics England Pilot Project, Genomics England 7 21 0 0 0 0 0 0 0 28
Genomic Research Center, Shahid Beheshti University of Medical Sciences 8 11 8 0 0 0 0 0 0 27
New York Genome Center 2 3 22 0 0 0 0 0 0 27
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 26 26
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 15 8 1 0 0 0 0 0 0 24
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 10 9 3 0 0 0 0 0 0 22
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 14 6 2 0 0 0 0 0 0 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 1 12 8 0 0 0 0 22
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 19 2 0 0 0 0 0 0 0 21
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 15 4 0 0 0 0 0 0 20
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 8 1 0 0 0 0 1 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 16 1 0 0 0 0 0 18
Genetic Services Laboratory, University of Chicago 10 7 0 0 0 0 0 0 0 17
Genetics and Molecular Pathology, SA Pathology 4 5 7 0 0 0 0 0 0 16
Autoinflammatory diseases unit, CHU de Montpellier 7 8 0 0 0 0 0 0 0 15
Molecular Genetics, Royal Melbourne Hospital 1 4 6 0 4 0 0 0 0 15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 7 0 0 0 0 1 0 0 14
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 5 9 0 0 0 0 0 0 14
Centogene AG - the Rare Disease Company 10 2 1 0 0 0 0 0 0 13
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 5 1 0 0 0 0 0 0 12
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 4 7 0 0 0 0 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 12 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 7 4 0 0 0 0 0 0 0 11
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 11 0 0 0 0 11
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 4 3 0 0 0 0 0 0 11
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 6 0 0 0 0 0 0 0 11
Center for Human Genetics, Inc, Center for Human Genetics, Inc 4 4 2 0 0 0 0 0 0 10
Institute of Medical Molecular Genetics, University of Zurich 0 10 0 0 0 0 0 0 0 10
Sharon lab, Hadassah-Hebrew University Medical Center 6 4 0 0 0 0 0 0 0 10
Undiagnosed Diseases Network, NIH 3 4 2 0 0 0 0 0 0 9
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 6 3 0 0 0 0 0 0 0 9
MyeliNeuroGene Lab, McGill University Health Center Research Institute 8 0 0 0 0 0 0 0 0 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 7 1 0 0 0 0 0 0 0 8
DBGen Ocular Genomics 5 3 0 0 0 0 0 0 0 8
MVZ Medizinische Genetik Mainz 2 2 4 0 0 0 0 0 0 8
Molecular Genetics Laboratory, Institute for Ophthalmic Research 6 1 0 0 0 0 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 1 0 6 0 0 0 0 0 0 7
Hyderabad Eye Research Foundation, L V Prasad Eye Institute 0 0 7 0 0 0 0 0 0 7
Center of Medical Genetics, Central South University 2 2 1 1 1 0 0 0 0 7
DASA 6 1 0 0 0 0 0 0 0 7
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 4 2 1 0 0 0 0 0 0 7
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 7 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 0 3 0 0 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 2 0 2 0 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 2 2 0 0 0 0 0 0 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 5 1 0 0 0 0 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 4 0 0 0 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 3 3 0 0 0 0 0 0 6
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 3 2 0 0 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 1 2 3 0 0 0 0 0 0 6
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 3 2 1 0 0 0 0 0 6
Solve-RD Consortium 0 6 0 0 0 0 0 0 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 1 0 0 0 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 5 0 0 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 3 0 0 0 0 0 0 5
Dept of Medicine and Surgery, University of Milano-Bicocca 5 0 0 0 0 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 2 0 0 0 0 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 1 2 0 0 0 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 3 0 2 0 0 0 0 0 0 5
Rizzo Lab, University of Nebraska Medical Center 5 0 0 0 0 0 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 2 0 0 0 0 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 1 0 0 0 0 0 0 0 5
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 2 2 1 0 0 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 1 0 3 0 0 0 0 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 1 1 0 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 2 2 0 0 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 1 1 0 0 0 0 0 0 4
Hadassah Hebrew University Medical Center 2 2 0 0 0 0 0 0 0 4
Laboratory of Human Molecular Genetics, Department of Medical Research, Taipei Veterans General Hospital 2 1 1 0 0 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 0 0 0 4
Department of Ophthalmology, California Pacific Medical Center 1 3 0 0 0 0 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 2 1 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 1 0 0 0 0 0 0 4
Suma Genomics 1 1 1 1 0 0 0 0 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 2 0 0 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 1 0 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 2 1 0 0 0 0 0 0 3
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 0 0 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 1 0 0 0 0 0 0 3
Leeds Vision Research Group, University of Leeds 3 0 0 0 0 0 0 0 0 3
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 1 1 0 0 0 0 0 0 3
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 1 0 0 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 1 2 0 0 0 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 1 0 0 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 3 0 0 0 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 2 0 0 0 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 0 0 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 0 1 0 0 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 3 0 0 0 0 0 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 0 0 0 3
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 2 0 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 1 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 1 2 0 0 0 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 1 0 0 0 0 0 0 3
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 3 0 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 2 0 0 0 0 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 0 0 0 2
Sema4, Sema4 1 1 0 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 2 0 0 0 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 1 1 0 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 0 0 0 2
GenePathDx, GenePath diagnostics 0 1 0 1 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 2 0 0 0 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 0 0 2 0 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 0 0 0 2
Hemoglobin and Genome Lab, University of Campinas 0 2 0 0 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 1 1 0 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 2 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 0 0 0 0 0 0 0 2
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 2 0 0 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 0 0 0 2
GenomeConnect - GM1 0 0 0 0 0 0 0 0 2 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 0 0 0 0 0 0 0 0 2
Section for Clinical Neurogenetics, University of Tübingen 2 0 0 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 2 0 0 0 0 0 0 0 0 2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 1 0 0 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 2 0 0 0 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 1 0 0 0 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 1 0 0 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 1 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 0 0 0 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 0 0 0 0 1 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 0 1
Aziz Sancar Institute of Experimental Medicine, Istanbul University 0 1 0 0 0 0 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 0 0 0 0 1
Erez Levanon lab, Bar Ilan University 1 0 0 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 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
Centre for Molecular Medicine and Therapeutics, University of British Columbia 0 1 0 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 0 0 0 0 1
Rappaport Faculty of Medicine, Technion-Israel Institute of Technology 1 0 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 0 0 0 1
Omics Laboratory, Stanford University 1 0 0 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 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
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 1 0 0 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 0 1 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 0 0 1
Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 0 0 0 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 1 0 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 0 0 0 1
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University 1 0 0 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 0 0 0 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 0 0 0 0 1
Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine 0 1 0 0 0 0 0 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 1 0 0 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 0 0 0 1

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