ClinVar Miner

Variants studied for DNA repair disease

Included ClinVar conditions (124):
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
3629 2121 15204 10966 1620 160 31768

Gene and significance breakdown #

Total genes and gene combinations: 144
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRIP1 413 185 2285 1146 63 4 3987
FANCA 688 309 1303 1720 119 9 3765
NBN 288 162 1454 882 65 19 2736
FANCM 143 20 1227 563 45 0 1996
SLX4 96 29 1195 659 96 3 1988
FANCI 127 132 755 812 64 2 1780
RAD51C 146 63 765 375 17 2 1335
SETX 45 28 492 457 342 4 1220
FANCD2, LOC107303338 98 83 383 458 60 1 1003
DCLRE1C 99 40 286 486 26 1 910
AOPEP, FANCC 88 87 408 365 29 3 901
FANCG 121 82 276 440 15 5 872
FANCA, ZNF276 111 50 266 279 28 0 657
ERCC4 31 12 390 214 50 1 656
FANCL 64 55 235 267 26 0 610
FANCB 26 4 251 262 71 0 575
FANCE 33 33 241 252 24 0 546
FANCC 82 62 155 180 11 6 451
FANCD2, FANCD2OS 35 34 175 202 14 0 438
BRCA2 90 9 190 85 36 23 420
FANCF 32 16 228 92 21 0 371
ERCC6 46 105 144 26 28 0 321
PALB2 48 9 191 49 8 10 306
ERCC2 44 83 119 37 14 2 265
XPC 45 70 121 26 30 1 263
RAD50 41 62 124 38 18 13 261
POLH, POLR1C 18 6 173 36 40 5 259
BIVM-ERCC5, ERCC5 19 10 79 20 25 0 142
BRCA1 56 5 30 22 18 1 130
PMS2 36 11 61 5 5 15 129
XPA 23 48 52 12 5 3 128
ERCC3 13 12 72 32 14 0 125
FANCA, LOC112486223 18 11 54 50 5 0 123
ERCC8 28 38 49 4 13 0 120
FANCE, LOC129996245 8 11 68 36 2 0 117
LOC129390903, RAD51C 19 3 67 30 0 1 117
LOC126860438, NBN 13 12 52 36 3 0 109
MSH6 22 5 56 11 4 7 105
FANCA, LOC130059837 18 13 43 31 1 0 90
LIG4 0 0 52 8 24 0 84
APTX 17 7 36 9 17 0 83
MLH1 16 8 42 11 2 5 83
FANCD2 20 7 28 25 3 0 80
MSH2 15 3 43 11 3 7 79
TDP1 1 1 50 5 21 0 78
FANCI, POLG, POLGARF 2 0 29 25 10 0 63
FANCA, LOC132090450 11 8 13 32 2 0 61
ERCC4, LOC130058543 4 0 40 16 1 0 60
DDB2 5 1 35 10 4 0 52
FANCF, LOC130005443 0 1 24 11 2 0 36
FANCL, VRK2 2 1 20 15 2 0 36
RAD50, TH2-LCR, TH2LCRR 7 10 19 1 0 2 36
LOC130061310, RAD51C 2 2 9 18 0 0 29
​intergenic 24 0 0 0 0 0 24
LOC129936244, XPC 1 5 15 2 3 0 24
XRCC2 0 3 17 3 4 0 24
BIVM-ERCC5, ERCC5, LOC126861834 4 5 17 0 2 0 23
ERCC6, ERCC6-PGBD3 3 10 7 1 0 0 21
FANCM, LOC130055524 1 0 12 9 0 0 21
PIK3R5 1 0 9 0 11 1 21
RAD50, TH2LCRR 1 1 17 2 2 1 21
BRCA1, LOC126862571 8 0 8 2 2 0 20
TMEM43, XPC 0 0 1 13 10 0 20
ERCC6, LOC126860933 2 7 5 1 3 0 18
FANCA, LOC132090445, ZNF276 4 2 3 11 0 0 18
ERCC6, ERCC6-PGBD3, PGBD3 0 8 8 1 0 0 17
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
ERCC6, PGBD3 2 1 7 2 1 0 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
LOC129996521, POLH, POLR1C 0 0 9 0 2 0 11
ERCC6, LOC130003806 0 1 7 0 2 0 10
ERCC8, NDUFAF2 2 0 4 1 3 0 10
RFWD3 2 0 3 1 3 0 9
ZNF469 9 0 0 0 0 0 9
BRIP1, LOC130061360 3 0 5 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
FANCI, POLG 2 1 2 1 2 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, POLR1C 0 0 4 0 0 0 4
LOC130058347, SLX4 0 0 4 0 0 0 4
POLH 3 1 0 0 0 0 4
UVSSA 3 0 0 0 1 0 4
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, LOC110120932 0 1 1 0 0 0 2
DCLRE1B 2 0 0 0 0 0 2
FANCA, LOC130059837, LOC130059838, LOC132090450 0 2 0 0 0 0 2
FANCC, LOC130002128 1 0 1 0 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
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
DCLRE1C, LOC130003417 1 0 0 0 0 0 1
DCLRE1C, LOC130003418, MEIG1 1 0 0 0 0 0 1
DECR1, NBN 0 0 1 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, 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
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
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: 175
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2360 680 11514 10020 996 0 25569
Illumina Laboratory Services, Illumina 11 8 2173 380 627 0 3187
Fulgent Genetics, Fulgent Genetics 313 139 1564 459 65 0 2540
Natera, Inc. 80 27 985 140 73 0 1305
Baylor Genetics 314 586 373 1 0 0 1271
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 19 122 81 28 0 280
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 113 127 0 0 0 0 240
Myriad Genetics, Inc. 12 149 4 0 0 0 165
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 9 5 113 2 0 0 129
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 107 107
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 10 10 38 4 6 0 68
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
Neuberg Centre For Genomic Medicine, NCGM 19 18 20 0 0 0 57
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 18 20 12 1 1 0 52
GeneReviews 3 0 0 0 0 40 43
Centre for Mendelian Genomics, University Medical Centre Ljubljana 9 1 24 0 5 0 39
3billion 21 11 5 0 0 0 37
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 4 10 2 0 0 27
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 12 13 0 0 0 0 25
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 3 9 8 0 21
Institute of Human Genetics, University of Leipzig Medical Center 7 2 8 1 1 0 19
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
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 2 7 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 14 14
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 7 2 1 0 0 0 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 9 0 0 0 0 0 9
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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 2 0 0 0 0 8
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 3 2 0 8
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 2 2 0 0 0 7
Reproductive Health Research and Development, BGI Genomics 1 1 4 0 1 0 7
DASA 5 2 0 0 0 0 7
New York Genome Center 0 0 6 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
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 3 0 0 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
Pars Genome Lab 0 0 2 1 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 3 0 0 0 0 0 3
Athena Diagnostics Inc 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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 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
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
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
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 Program, 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 2 0 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
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
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 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
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 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

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