ClinVar Miner

Variants studied for DNA repair disease

Included ClinVar conditions (97):
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 risk factor not provided total
2034 1170 10690 2796 1225 1 7 16978

Gene and significance breakdown #

Total genes and gene combinations: 92
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
ATM 491 223 2007 544 93 0 0 3169
ATM, C11orf65 281 155 1220 298 64 0 2 1918
BRIP1 160 83 1094 279 50 0 0 1596
NBN 119 80 706 184 31 0 1 1070
BLM 87 104 687 194 46 0 0 1047
FANCA 165 117 376 146 61 0 0 789
RAD51C 77 49 403 94 8 0 0 612
SLX4 20 5 393 99 83 0 0 565
FANCM 25 7 370 79 34 1 0 491
MRE11 21 14 306 62 34 0 0 407
SETX 23 3 254 69 61 0 0 391
AOPEP, FANCC 23 42 190 68 23 0 0 320
FANCI 15 7 227 50 39 0 0 313
BRCA2 39 1 148 68 28 0 1 282
ERCC4 12 3 160 47 41 0 0 249
POLH 18 3 172 20 39 0 0 245
ERCC6 30 32 124 22 25 0 0 221
DNMT3B 14 2 132 37 26 0 0 197
XPC 28 42 105 7 18 0 0 192
FANCC 37 33 94 34 7 0 0 180
FANCD2, LOC107303338 10 3 104 45 38 0 0 177
FANCA, ZNF276 15 22 91 31 21 0 0 169
FANCG 21 5 102 39 8 0 0 166
DCLRE1C 24 2 70 33 13 0 0 142
FANCB 22 2 53 22 44 0 0 138
FANCF 6 2 90 20 24 0 0 136
BIVM-ERCC5, ERCC5 17 4 79 18 26 0 0 135
FANCE 5 2 104 16 16 0 0 135
PALB2 19 0 68 17 7 0 1 112
ERCC2 21 5 71 8 8 0 1 111
ERCC8 18 18 49 4 13 0 0 96
XPA 13 37 39 5 4 0 0 95
TDP1 1 0 56 6 24 0 0 86
LIG4 0 0 52 8 24 0 0 84
RAD50 6 8 37 15 12 0 0 76
ERCC3 11 2 45 5 13 0 0 75
FANCD2, FANCD2OS 1 1 54 9 11 0 0 71
ZBTB24 7 0 33 19 11 0 0 70
FANCL 9 4 41 12 6 0 0 67
NBN, OSGIN2 2 6 38 5 13 0 0 64
APTX 13 1 31 4 14 0 0 62
ERCC6, ERCC6-PGBD3 6 15 24 5 6 0 0 55
FANCL, VRK2 5 7 32 9 7 0 0 55
BRCA1 28 0 20 0 2 0 0 50
DDB2 4 0 31 3 3 0 0 41
FANCI, POLG 1 0 19 6 10 0 0 32
FANCA, LOC112486223 10 7 10 1 3 0 0 29
ERCC6, ERCC6-PGBD3, PGBD3 2 1 13 3 1 0 0 20
TMEM43, XPC 0 0 1 13 10 0 0 20
ERCC1 3 1 8 2 3 0 0 17
XRCC2 0 0 13 3 0 0 0 16
FANCD2 3 2 6 1 2 0 0 14
ERCC2, KLC3 0 0 8 2 1 0 0 11
ERCC8, NDUFAF2 2 0 4 0 3 0 0 9
BRIP1, LOC110120932 1 1 5 0 0 0 0 7
HELLS 6 0 1 0 0 0 0 7
BRCA2, LOC106721785 0 0 3 2 1 0 0 6
FANCG, VCP 0 0 2 3 6 0 0 6
RAD50, TH2LCRR 1 0 3 1 1 0 0 6
CDCA7 4 0 0 0 0 0 0 4
GINS1 4 2 0 0 0 0 0 4
MICAL1, ZBTB24 0 0 3 0 1 0 0 4
UVSSA 3 0 0 0 1 0 0 4
GTF2H5 2 1 0 0 0 0 0 3
GTPBP2, POLH 0 0 1 0 2 0 0 3
RNF168 3 0 0 0 0 0 0 3
TOP3A 3 0 0 0 0 0 0 3
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 0 2
ERCC5 2 0 0 0 0 0 0 2
PCNA 1 1 0 0 0 0 0 2
RAD50, TH2-LCR, TH2LCRR 0 1 1 0 0 0 0 2
RAD51 1 1 0 0 0 0 0 2
RFWD3 2 0 0 0 0 0 0 2
UBE2T 2 0 0 0 0 0 0 2
ACAT1, ATM, NPAT 0 0 1 0 0 0 0 1
ASXL1, C20orf203, COMMD7, DNMT3B, KIF3B, NOL4L, POFUT1 0 0 1 0 0 0 0 1
ATM, NPAT 1 0 0 0 0 0 0 1
BLM, FES, FURIN, HDDC3, MAN2A2, PRC1, RCCD1, UNC45A 0 0 1 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 0 0 1
DCLRE1C, MEIG1 1 0 0 0 0 0 0 1
DCLRE1C, SUV39H2 0 0 1 0 0 0 0 1
DECR1, NBN 0 0 1 0 0 0 0 1
ERCC1, POLR1G 0 0 0 0 1 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 0 1
FANCA, LOC112486223, ZNF276 1 0 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 1
MIR548L, MRE11 0 1 0 0 0 0 0 1
MPLKIP 1 0 0 0 0 0 0 1
MSH2 0 0 0 0 0 0 1 1
PIK3R5 1 0 1 0 0 0 0 1
PNKP 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 95
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1454 403 7760 2145 637 1 0 12398
Illumina Clinical Services Laboratory,Illumina 14 10 2647 446 720 0 0 3826
Counsyl 131 689 580 156 46 0 0 1601
Mendelics 66 40 418 154 65 0 0 742
Fulgent Genetics,Fulgent Genetics 107 9 339 0 3 0 0 458
OMIM 316 0 3 0 0 0 0 319
Integrated Genetics/Laboratory Corporation of America 78 41 0 0 0 0 0 119
GeneReviews 82 0 0 0 0 0 1 83
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 1 9 7 34 0 0 55
Baylor Genetics 39 9 6 0 0 0 0 54
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 3 16 22 0 0 42
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 8 19 9 0 0 37
Genetic Services Laboratory, University of Chicago 28 5 0 0 0 0 0 33
Claritas Genomics 23 5 0 0 0 0 0 28
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 24 0 0 0 0 28
Leiden Open Variation Database 24 0 3 0 0 0 0 27
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 5 8 11 0 0 24
Molecular Diagnostics Laboratory, M Health: University of Minnesota 11 13 0 0 0 0 0 24
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 2 16 4 0 0 22
Institute of Human Genetics,Klinikum rechts der Isar 12 6 0 0 0 0 0 18
Genomic Research Center, Shahid Beheshti University of Medical Sciences 8 2 8 0 0 0 0 18
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 8 8 0 0 0 0 0 16
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 5 5 2 0 1 0 0 13
Natera Inc 1 0 2 3 3 0 0 9
Pathway Genomics 3 0 3 2 0 0 0 8
Myriad Women's Health, Inc. 7 1 0 0 0 0 0 8
Reproductive Health Research and Development,BGI Genomics 1 1 4 0 1 0 0 7
PALB2 database 4 0 2 0 0 0 0 6
Division of Human Genetics,Children's Hospital of Philadelphia 4 1 0 0 0 0 0 5
Center for Individualized Medicine,Mayo Clinic 1 4 0 0 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 3 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 4 1 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 2 1 1 1 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 2 0 0 0 0 4
Department of Hematology,University of Health Sciences 0 2 0 2 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 3 0 0 0 0 0 4
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 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 0 4
Athena Diagnostics Inc 0 0 0 0 3 0 0 3
Innovations Lab, Hyderabad,Tata Consultancy Services Ltd 3 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 0 3
IntelligeneCG 0 0 0 0 3 0 0 3
Undiagnosed Diseases Network,NIH 1 2 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 0 3
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 3 0 0 0 0 0 0 3
Institute of Human Genetics,Cologne University 2 0 0 0 0 0 0 2
Medical Genetics Institute,Shaare Zedek Medical Center 2 0 0 0 0 0 0 2
DNA Repair Laboratory,Institute of Biomedical Sciences - University of Sao Paulo 2 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 2
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 2 0 0 0 0 2
University of Washington Center for Mendelian Genomics,University of Washington 2 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 2
Genetic Diagnostic Laboratory,University of Szeged 1 1 0 0 0 0 0 2
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 2 0 0 0 0 0 0 2
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 0 1 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 2 0 0 0 0 0 0 2
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1 0 0 0 1 0 0 2
Children's Hospital of Soochow University,Soochow University 2 0 0 0 0 0 0 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 1 0 1 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 1 0 0 0 0 0 2
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 1 0 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 0 2
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 0 2 0 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 0 0 0 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 0 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Molecular Metabolic laboratory,Sheba Medical Center Tel-Hashomer 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 0 0 1
Miami Human Genetics,University of Miami Miller School of Medicine 1 0 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 0 1
StellarGene Technologies Pvt. Ltd. 1 0 0 0 0 0 0 1
Department of Medical Genetics,College of Basic Medicine, Army Medical University 1 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 0 0 1
Neurology,Jichi Medical University 1 0 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 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 0 1

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