ClinVar Miner

Variants studied for DNA repair disease

Included ClinVar conditions (126):
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
3840 2373 15302 10972 1620 160 32266

Gene and significance breakdown #

Total genes and gene combinations: 153
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRIP1 423 189 2288 1146 63 4 4003
FANCA 745 345 1305 1720 119 9 3847
NBN 295 166 1458 882 65 19 2751
FANCM 143 22 1228 563 45 0 1999
SLX4 96 30 1197 661 96 3 1991
FANCI 136 151 755 812 64 2 1805
RAD51C 155 66 769 375 17 2 1351
SETX 48 33 496 457 342 4 1231
FANCD2, LOC107303338 98 103 385 457 60 1 1020
DCLRE1C 108 41 290 487 26 1 923
AOPEP, FANCC 89 94 408 365 29 3 904
FANCG 122 93 277 440 15 5 880
FANCA, ZNF276 126 54 267 279 28 0 675
ERCC4 33 13 391 214 50 1 658
FANCL 69 63 234 267 26 0 620
FANCB 26 6 253 262 71 0 577
FANCE 34 39 242 252 24 0 550
FANCC 86 68 159 180 11 6 461
BRCA2 106 19 191 85 36 23 446
FANCD2, FANCD2OS 36 42 175 202 14 0 445
FANCF 33 21 228 92 21 0 378
ERCC6 52 118 154 27 28 0 349
PALB2 50 14 190 49 8 10 312
ERCC2 53 112 120 38 14 2 303
RAD50 41 67 160 38 18 13 301
XPC 46 85 121 27 30 1 280
POLH 19 7 110 31 34 5 188
BIVM-ERCC5, ERCC5 20 12 81 20 25 0 145
BRCA1 62 8 30 22 18 1 139
XPA 28 56 53 12 5 3 139
PMS2 36 13 62 5 5 15 131
ERCC3 14 13 74 32 14 0 129
ERCC8 29 40 50 4 13 0 123
FANCA, LOC112486223 18 11 54 50 5 0 123
FANCE, LOC129996245 8 12 68 37 2 0 118
LOC129390903, RAD51C 19 3 67 30 0 1 117
LOC126860438, NBN 13 12 52 36 3 0 109
MSH6 24 7 56 11 4 7 109
FANCA, LOC130059837 18 15 43 31 1 0 92
FANCD2 30 8 28 25 3 0 91
MLH1 18 8 42 11 2 5 85
LIG4 0 0 52 8 24 0 84
APTX 17 8 36 9 17 0 83
MSH2 16 4 43 11 3 7 81
TDP1 1 1 50 5 21 0 78
POLH, POLR1C 2 0 63 5 6 0 75
FANCI, POLG 5 1 31 26 12 0 71
FANCA, LOC132090450 11 8 13 32 2 0 61
ERCC4, LOC130058543 4 0 40 16 1 0 60
DDB2 6 1 35 10 4 0 53
RAD50, TH2-LCR, TH2LCRR 7 10 24 1 0 2 41
FANCL, VRK2 3 2 21 15 2 0 39
FANCF, LOC130005443 0 2 24 11 2 0 37
ERCC6, PGBD3 2 10 16 3 1 0 32
LOC130061310, RAD51C 2 2 9 18 0 0 29
XRCC2 0 3 18 3 4 0 25
​intergenic 24 0 0 0 0 0 24
LOC129936244, XPC 1 5 15 2 3 0 24
RAD50, TH2LCRR 1 1 20 2 2 1 24
BIVM-ERCC5, ERCC5, LOC126861834 4 5 17 0 2 0 23
BRCA1, LOC126862571 9 0 8 2 2 0 21
FANCM, LOC130055524 1 0 12 9 0 0 21
PIK3R5 1 0 9 0 11 1 21
TMEM43, XPC 0 0 1 13 10 0 20
ERCC6, LOC126860933 2 7 6 1 3 0 19
FANCA, LOC132090445, ZNF276 4 2 3 11 0 0 18
FANCF, LOC130005444 0 1 9 4 1 0 15
LOC126860782, SETX 0 0 4 7 5 0 14
ERCC1 3 2 6 0 1 2 13
FANCA, LOC130059837, LOC130059838 11 1 0 0 0 0 12
LOC126862019, TDP1 0 0 9 1 3 0 12
DDB2, LOC126861205 0 1 9 1 1 0 11
ERCC2, KLC3 0 0 8 2 1 0 11
FANCA, LOC112486223, LOC130059839 9 1 1 0 0 0 11
ERCC6, LOC130003806 0 1 7 0 2 0 10
ERCC8, NDUFAF2 2 0 4 1 3 0 10
LOC129996521, POLH 0 0 8 0 2 0 10
RFWD3 2 0 4 1 3 0 10
ZNF469 9 0 0 0 0 0 9
BRIP1, LOC130061360 4 0 4 0 0 0 8
GTF2H5 5 1 2 0 0 0 8
BRCA2, LOC106721785 0 1 3 2 1 0 7
FANCG, VCP 1 0 3 5 6 0 7
LOC129390903, LOC130061310, LOC130061311, RAD51C 3 0 3 0 0 0 6
RAD51 2 3 1 0 0 0 6
BRIP1, LOC110120932, LOC130061360 1 0 4 0 0 0 5
UBE2T 4 0 0 0 1 0 5
COA7 2 1 1 0 0 0 4
LOC126860783, SETX 0 0 3 0 1 0 4
LOC129390903, LOC130061311, RAD51C 4 0 0 0 0 0 4
LOC129996520, POLH 0 0 4 0 0 0 4
LOC130058347, SLX4 0 0 4 0 0 0 4
UVSSA 3 0 0 0 1 0 4
ARID1B 2 1 0 0 0 0 3
COA7, LOC129388524 3 0 0 0 0 0 3
DCLRE1C, MEIG1 3 0 0 0 0 0 3
DCLRE1C, SUV39H2 0 0 1 0 1 1 3
FANCA, SPIRE2 2 0 1 0 0 0 3
LOC126860438, LOC130000714, NBN 1 0 2 0 0 0 3
AOPEP, FANCC, LOC100507346, LOC105376156, LOC110121043, LOC124310595, LOC124310596, LOC124310597, LOC124310598, LOC124310599, LOC124310600, LOC130002126, LOC130002127, LOC130002128, LOC130002129, LOC130002130, LOC130002131, LOC130002132, LOC130002133, LOC132089731, LOC132089732, LOC132089733, PTCH1 1 0 1 0 0 0 2
BRIP1, INTS2 2 0 0 0 0 0 2
BRIP1, LOC110120932 0 1 1 0 0 0 2
CDK10, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 2 0 0 0 0 0 2
DCLRE1B 2 0 0 0 0 0 2
DECR1, NBN 0 0 2 0 0 0 2
ERCC6, ERCC6-PGBD3 1 0 1 0 0 0 2
FANCA, LOC130059837, LOC130059838, LOC132090450 0 2 0 0 0 0 2
FANCC, LOC130002128 1 0 1 0 0 0 2
FANCD2, LOC107303338, VHL 1 1 0 1 0 0 2
LOC130000714, NBN 1 0 1 0 0 0 2
PCNA 1 1 1 0 0 0 2
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2 0 0 1 0 0 0 1
ACSF3, ANKRD11, APRT, BANP, CA5A, CBFA2T3, CDH15, CDK10, CDT1, CENPBD1, CHMP1A, CPNE7, CTU2, CYBA, DBNDD1, DEF8, DPEP1, FANCA, GALNS, GAS8, IL17C, JPH3, KLHDC4, LOC101927817, MC1R, MVD, PABPN1L, PIEZO1, RNF166, RPL13, SLC22A31, SLC7A5, SNAI3, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TRAPPC2L, TUBB3, VPS9D1, ZC3H18, ZFPM1, ZNF276, ZNF469, ZNF778 0 0 1 0 0 0 1
AGAP6, ARHGAP22, ASAH2, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FRMPD2, LRRC18, MAPK8, MSMB, NCOA4, OGDHL, PARG, PGBD3, SGMS1, SLC18A3, TIMM23, TMEM273, VSTM4, WASHC2A, WDFY4 1 0 0 0 0 0 1
ANKRD11, CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 0 0 1 0 0 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL 1 0 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, VHL 1 0 0 0 0 0 1
C14orf28, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1 1 0 0 0 0 0 1
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14 0 0 1 0 0 0 1
CDK10, CENPBD1, CHMP1A, CPNE7, DBNDD1, DEF8, DPEP1, FANCA, GAS8, MC1R, RPL13, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TUBB3, VPS9D1, ZNF276 0 0 1 0 0 0 1
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 1 0 0 0 0 0 1
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 0 0 1 0 0 0 1
CDK10, CHMP1A, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 1 0 0 0 0 0 1
CENPBD1, DBNDD1, DEF8, FANCA, GAS8, MC1R, SPIRE2, TCF25, TUBB3 1 0 0 0 0 0 1
DCLRE1C, LOC130003417 1 0 0 0 0 0 1
DCLRE1C, LOC130003418, MEIG1 1 0 0 0 0 0 1
DCTN5, PALB2 1 0 0 0 0 0 1
DEPDC1B, ELOVL7, ERCC8 1 0 0 0 0 0 1
DMD, FANCA 1 0 0 0 0 0 1
ERCC1, POLR1G 0 0 0 0 1 0 1
ERCC4, LOC130058543, LOC130058544 1 0 0 0 0 0 1
ERCC4, MIR193B, MIR365A, MRTFB, PARN 0 0 1 0 0 0 1
ERCC5 0 1 0 0 0 0 1
FANCA, LOC112486223, LOC125177396, LOC126862451, LOC128772421, LOC130059837, LOC130059838, LOC130059839, LOC130059840, LOC130059841, LOC130059842, LOC130059843, LOC130059844, LOC130059845, LOC130059846, LOC132090451, LOC132090890, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 1
FANCA, LOC112486223, LOC129390817, LOC130059837, LOC130059838, LOC130059839, LOC132090445, LOC132090446, LOC132090447, LOC132090448, LOC132090449, LOC132090450, ZNF276 1 0 0 0 0 0 1
FANCA, LOC112486223, LOC130059837, LOC130059838, LOC130059839 1 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, TUBB3 1 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 0 1
FANCC, PTCH1 0 0 1 0 0 0 1
FANCF, LOC130005443, LOC130005444 0 0 1 0 0 0 1
FANCL, LOC129388866, LOC129933782, VRK2 1 0 0 0 0 0 1
FANCL, LOC129388866, VRK2 0 1 0 0 0 0 1
GCK 0 1 0 0 0 0 1
HIRA 0 0 1 0 0 0 1
LGR6, UBE2T 1 0 0 0 0 0 1
LOC112486220, ZNF469 1 0 0 0 0 0 1
LOC126860438, LOC130000714, NBN, OSGIN2 1 0 0 0 0 0 1
LOC129996521, POLH, POLR1C 0 0 1 0 0 0 1
LOC130058346, SLX4 0 0 1 0 0 0 1
MAD2L2 1 0 0 0 0 0 1
MPLKIP 1 0 0 0 0 0 1
MT-ATP6 1 0 0 0 0 0 1
PNKP 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 188
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2489 702 11535 10020 996 0 25741
Illumina Laboratory Services, Illumina 11 10 2169 380 627 0 3185
Fulgent Genetics, Fulgent Genetics 313 139 1564 459 65 0 2540
Baylor Genetics 367 785 431 1 0 0 1581
Natera, Inc. 80 27 985 140 73 0 1305
Genome-Nilou Lab 79 21 700 122 203 0 1125
Sema4, Sema4 15 35 534 420 66 0 1070
Counsyl 73 377 373 92 29 0 943
Leiden Open Variation Database 617 8 114 1 0 0 740
OMIM 301 0 2 0 0 0 303
KCCC/NGS Laboratory, Kuwait Cancer Control Center 5 0 2 69 227 0 303
Revvity Omics, Revvity 132 46 109 0 0 0 287
Mendelics 30 19 120 81 28 0 278
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 139 138 0 0 0 0 277
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 11 6 143 5 0 0 165
Myriad Genetics, Inc. 12 149 4 0 0 0 165
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 107 107
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 11 10 56 6 7 0 90
Neuberg Centre For Genomic Medicine, NCGM 24 28 30 0 0 0 82
Juno Genomics, Hangzhou Juno Genomics, Inc 38 32 4 0 0 0 74
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 26 25 17 3 1 0 71
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 4 45 4 2 0 57
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 26 5 26 0 0 0 57
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 24 7 18 2 0 0 51
GeneReviews 3 0 0 0 0 40 43
3billion 21 10 6 4 0 0 41
Centre for Mendelian Genomics, University Medical Centre Ljubljana 9 1 24 0 5 0 39
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 16 0 0 0 0 31
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 7 12 12 0 0 0 31
Claritas Genomics 23 5 0 0 0 0 28
Genetic Services Laboratory, University of Chicago 23 5 0 0 0 0 28
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 12 13 0 0 0 0 25
Institute of Human Genetics, University of Leipzig Medical Center 7 3 10 1 1 0 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 3 9 8 0 21
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 8 0 0 0 0 20
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 2 6 8 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 3 6 0 16
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 3 7 0 0 0 16
MGZ Medical Genetics Center 5 7 3 0 0 0 15
Johns Hopkins Genomics, Johns Hopkins University 6 1 6 2 0 0 15
Istanbul Faculty of Medicine, Istanbul University 6 4 5 0 0 0 15
GenomeConnect, ClinGen 0 0 0 0 0 14 14
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 7 5 1 0 0 0 13
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 5 3 0 1 0 13
Medical Molecular Genetics Department, National Research Center 12 0 0 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 6 4 0 0 12
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 6 5 0 0 0 0 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 9 1 0 0 0 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 9 0 0 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 4 2 0 0 0 9
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 4 3 2 0 0 0 9
Daryl Scott Lab, Baylor College of Medicine 7 1 1 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 3 2 4 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 5 0 8
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 3 2 0 8
New York Genome Center 1 1 6 0 0 0 8
Reproductive Health Research and Development, BGI Genomics 1 1 4 0 1 0 7
Human Genetics Section, Sidra Medicine 3 3 1 0 0 0 7
DASA 5 2 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 6
Lifecell International Pvt. Ltd 2 4 0 0 0 0 6
Genomics England Pilot Project, Genomics England 2 4 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 4 0 1 0 1 0 6
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 5 0 1 0 0 0 6
Institute of Human Genetics, Cologne University 3 1 1 0 0 0 5
Institute of Human Genetics, Medical University Innsbruck 5 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 4 1 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 3 0 0 0 0 5
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 4 1 0 0 0 0 5
Centogene AG - the Rare Disease Company 0 3 1 0 0 0 4
DNA Repair Laboratory, Institute of Biomedical Sciences - University of Sao Paulo 4 0 0 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 3 1 0 0 0 0 4
Department of Hematology, University of Health Sciences 0 2 0 2 0 0 4
Molecular Genetics and Enzymology, National Research Centre 4 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 0 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 2 0 1 0 4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 4 0 0 0 0 0 4
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 1 1 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 3 0 0 0 4
Pars Genome Lab 0 0 2 1 1 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 2 0 0 0 4
Istituto di Genetica Molecolare, National Research Council of Italy 4 0 0 0 0 0 4
Innovations Lab, Hyderabad, Tata Consultancy Services Ltd 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 1 2 0 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 2 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 2 0 1 0 0 3
IntelligeneCG 0 0 0 0 3 0 3
Undiagnosed Diseases Network, NIH 1 2 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Ege University Pediatric Genetics, Ege University 2 1 0 0 0 0 3
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 2 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 0 2 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 0 3
Breda Genetics srl 2 0 1 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 2 0 0 0 3
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 2 0 0 0 0 3
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 2 1 0 0 0 3
Cowan and Puck Lab, Allergy Immunology and BMT Division, UCSF Benioff Children's Hospital 3 0 0 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 2
Institute of Human Genetics, University of Goettingen 1 1 0 0 0 0 2
Medical Genetics Institute, Shaare Zedek Medical Center 2 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 2 0 0 0 0 0 2
Center for Individualized Medicine, Mayo Clinic 0 2 0 0 0 0 2
Genetic Diagnostic Laboratory, University of Szeged 1 1 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1 0 0 0 1 0 2
Center for Medical Genetics, Keio University School of Medicine 2 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 0 0 0 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 1 1 0 0 0 0 2
Children's Hospital of Soochow University, Soochow University 2 0 0 0 0 0 2
Department of Pathology and Genetics, University of Gothenburg 0 2 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 1 0 0 0 0 2
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 2 0 0 0 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 1 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 2 0 0 0 0 0 2
Dr.Nikuei Genetic Center 1 1 0 0 0 0 2
King Laboratory, University of Washington 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Molecular Metabolic laboratory, Sheba Medical Center Tel-Hashomer 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 0 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 0 1
StellarGene Technologies Pvt. Ltd. 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 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
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 0 0 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
International Fanconi Anemia Registry, The Rockefeller University 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 1 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Molecular Medicine, NSW Health Pathology North, Newcastle 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 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 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 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 1
King Fahd Medical Research Center, King Abdulaziz University 0 0 1 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 1
Department of Animal Biology, Molecular and Human Genetics Lab, University of Tabriz 1 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 1 0 0 0 0 0 1
Cytogenetics and Genomics Laboratory, 'Dr. Enrique Corona Rivera' Institute of Human Genetics 1 0 0 0 0 0 1

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