ClinVar Miner

Variants studied for DNA repair disease

Included ClinVar conditions (95):
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
1384 967 6647 2244 692 1 6 11327

Gene and significance breakdown #

Total genes and gene combinations: 79
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
ATM 311 188 1358 455 62 0 0 2253
ATM, C11orf65 182 128 808 243 24 0 2 1319
BRIP1 99 62 750 256 24 0 0 1142
NBN 83 66 483 149 27 0 1 773
BLM 74 94 440 114 31 0 0 704
FANCA 80 103 219 91 34 0 0 486
RAD51C 51 30 276 78 8 0 0 430
SLX4 13 3 246 110 54 0 0 394
MRE11 11 8 195 49 18 0 0 265
AOPEP, FANCC 11 37 135 52 13 0 0 233
FANCI 11 5 143 46 34 0 0 219
BRCA2 37 0 62 77 17 0 1 193
FANCM 0 0 125 38 32 1 0 175
ERCC6 31 33 59 50 14 0 0 172
SETX 18 2 91 28 27 0 0 166
POLH 18 3 112 19 7 0 0 157
ERCC4 11 1 90 35 26 0 0 155
FANCC 22 25 76 22 5 0 0 135
XPC 27 40 62 5 5 0 0 135
FANCD2, LOC107303338 8 3 52 34 30 0 0 111
FANCA, ZNF276 6 19 55 27 9 0 0 108
FANCG 15 3 58 21 7 0 0 103
DNMT3B 12 0 64 17 18 0 0 101
FANCE 3 0 71 18 13 0 0 99
FANCF 5 2 64 19 16 0 0 97
BIVM-ERCC5, ERCC5 16 3 46 18 13 0 0 84
XPA 13 37 30 4 2 0 0 83
PALB2 15 0 31 23 3 0 1 73
RAD50 6 7 36 12 11 0 0 71
ERCC8 16 17 31 6 4 0 0 70
FANCB 7 1 30 7 23 0 0 68
ERCC2 21 4 31 3 4 0 1 63
LIG4 0 0 42 18 1 0 0 61
DCLRE1C 14 0 22 9 7 0 0 52
BRCA1 28 0 20 0 2 0 0 50
ERCC6, ERCC6-PGBD3 5 14 14 9 5 0 0 46
ERCC3 9 0 29 7 0 0 0 45
FANCD2, FANCD2OS 1 0 30 5 9 0 0 44
NBN, OSGIN2 2 6 20 10 5 0 0 43
FANCL 7 2 19 11 4 0 0 42
FANCL, VRK2 4 4 19 7 5 0 0 34
ZBTB24 6 0 14 4 9 0 0 33
DDB2 4 0 20 1 1 0 0 26
FANCI, POLG 1 0 13 6 5 0 0 25
FANCA, LOC112486223 6 7 8 3 2 0 0 22
TMEM43, XPC 0 0 1 13 6 0 0 20
ERCC6, ERCC6-PGBD3, PGBD3 2 1 8 5 1 0 0 17
APTX 13 1 0 1 1 0 0 16
ERCC1 3 1 7 2 3 0 0 16
FANCD2 3 1 4 2 0 0 0 10
ERCC8, NDUFAF2 1 0 4 0 3 0 0 8
BRIP1, LOC110120932 1 1 4 0 0 0 0 6
FANCG, VCP 0 0 1 2 6 0 0 6
HELLS 6 0 0 0 0 0 0 6
RAD50, TH2LCRR 1 0 3 1 1 0 0 6
ERCC2, KLC3 0 0 5 0 0 0 0 5
BRCA2, LOC106721785 0 0 1 2 1 0 0 4
CDCA7 4 0 0 0 0 0 0 4
GINS1 4 2 0 0 0 0 0 4
GTF2H5 2 1 0 0 0 0 0 3
RNF168 3 0 0 0 0 0 0 3
TDP1 1 0 2 0 0 0 0 3
TOP3A 3 0 0 0 0 0 0 3
UVSSA 3 0 0 0 0 0 0 3
XRCC2 0 0 3 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
MICAL1, ZBTB24 0 0 2 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
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 0 1
GTPBP2, POLH 0 0 1 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 1
MPLKIP 1 0 0 0 0 0 0 1
PCNA 1 0 0 0 0 0 0 1
PIK3R5 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 824 232 4933 1611 479 1 0 8080
Illumina Clinical Services Laboratory,Illumina 13 10 1281 502 177 0 0 1983
Counsyl 133 684 578 156 46 0 0 1596
Fulgent Genetics 107 9 339 0 3 0 0 458
Mendelics 40 14 271 14 1 0 0 340
OMIM 316 0 3 0 0 0 0 319
Integrated Genetics/Laboratory Corporation of America 78 41 0 0 0 0 0 119
GeneReviews 114 0 0 0 0 0 1 115
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
Baylor Miraca Genetics Laboratories, 16 3 6 0 0 0 0 25
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 20 0 0 0 0 24
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 5 8 11 0 0 24
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 2 16 4 0 0 22
Molecular Diagnostics Laboratory,M Health: University of Minnesota 11 11 0 0 0 0 0 22
Genomic Research Center,Shahid Beheshti University of Medical Sciences 7 4 5 0 0 0 0 16
PALB2 database 8 0 2 0 0 0 0 10
Pathway Genomics 3 0 3 2 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 4 0 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 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
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
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 0 0 0 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,Institute of Human Genetics 1 2 0 0 0 0 0 3
IntelligeneCG 0 0 0 0 3 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 Medical Center 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
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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 1 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 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
Center for Human Genetics, Inc 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 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
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
Undiagnosed Diseases Network,NIH 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 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

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