ClinVar Miner

Variants studied for autosomal recessive cerebellar ataxia due to a DNA repair defect

Included ClinVar conditions (31):
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
1370 589 5983 1668 469 4 9603

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATM 736 276 2686 856 97 0 4413
ATM, C11orf65 417 184 1666 460 67 2 2667
MRE11 32 20 423 98 34 1 573
SETX 27 5 336 101 62 0 509
ERCC4 11 5 213 62 43 0 320
POLH, POLR1C 14 3 172 20 41 0 243
XPC 36 43 109 7 18 0 204
BIVM-ERCC5, ERCC5 18 4 79 18 27 0 136
ERCC2 18 4 73 8 8 0 108
XPA 16 37 39 5 4 0 97
TDP1 1 1 57 6 24 0 88
ERCC3 10 2 45 5 13 0 74
APTX 16 2 31 4 14 0 66
DDB2 4 0 32 3 3 0 42
TMEM43, XPC 0 0 1 13 10 0 20
ERCC2, KLC3 0 0 8 2 1 0 11
RNF168 4 0 3 0 3 0 10
PIK3R5 1 0 5 0 0 0 5
POLH 5 0 0 0 0 0 5
ERCC1 0 0 2 0 0 0 2
PCNA 1 1 1 0 0 0 2
AASDHPPT, ACAT1, ALG9, ALKBH8, AMOTL1, ANGPTL5, ANKRD49, ARHGAP20, ARHGAP42, ATM, BIRC2, BIRC3, BTG4, C11orf1, C11orf52, C11orf53, C11orf65, C11orf87, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CCDC82, CEP126, CEP57, CFAP300, CNTN5, COLCA2, CRYAB, CUL5, CWC15, CWF19L2, DCUN1D5, DDI1, DDX10, DIXDC1, DLAT, DYNC2H1, ELMOD1, ENDOD1, EXPH5, FAM76B, FDX1, FDXACB1, FUT4, GRIA4, GUCY1A2, HOATZ, HSPB2, JRKL, KBTBD3, KDM4D, KDM4E, LAYN, LOC100128088, LOC728196, MAML2, MIR34B, MIR34C, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MRE11, MSANTD4, MTMR2, NKAPD1, NPAT, PDGFD, PGR, PIH1D2, PIWIL4, POGLUT3, POU2AF1, PPP2R1B, RAB39A, RDX, SDHD, SESN3, SIK2, SLC35F2, SLN, SRSF8, TIMM8B, TMEM123, TMEM133, TRPC6, YAP1, ZC3H12C 1 0 0 0 0 0 1
ACAT1, ATM, NPAT 0 0 1 0 0 0 1
ATM, NPAT 1 0 0 0 0 0 1
ERCC5 1 0 0 0 0 0 1
GTPBP2, POLH, POLR1C 0 0 1 0 0 0 1
MIR548L, MRE11 0 1 0 0 0 0 1
MSH2 0 0 0 0 0 1 1
PNKP 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1144 243 4716 1426 166 0 7695
Illumina Clinical Services Laboratory,Illumina 6 6 1126 158 279 0 1571
Counsyl 64 294 222 61 18 0 659
Natera, Inc. 60 3 301 18 30 0 412
Mendelics 38 16 203 68 46 0 371
Fulgent Genetics,Fulgent Genetics 33 2 106 0 0 0 141
Integrated Genetics/Laboratory Corporation of America 109 30 0 0 0 0 139
OMIM 114 0 1 0 0 0 115
Baylor Genetics 29 4 54 0 0 0 87
GeneReviews 53 0 0 0 0 0 53
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 3 14 21 0 39
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 8 17 8 0 34
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 0 7 5 14 0 29
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 2 16 2 0 20
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 5 6 7 0 18
Institute of Human Genetics, Klinikum rechts der Isar 11 6 0 0 0 0 17
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 3 1 0 0 0 14
Medical Molecular Genetics Department, National Research Center 12 0 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 10 0 0 0 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 6 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 7 2 0 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 3 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 5 0 1 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 0 4 1 1 0 7
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 3 3 0 0 0 7
Claritas Genomics 6 0 0 0 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 2 0 0 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 3 0 0 0 0 5
Reproductive Health Research and Development,BGI Genomics 0 1 4 0 0 0 5
Undiagnosed Diseases Network,NIH 2 2 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 1 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
Division of Human Genetics,Children's Hospital of Philadelphia 3 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 3
SIB Swiss Institute of Bioinformatics 0 0 1 1 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
DNA Repair Laboratory,Institute of Biomedical Sciences - University of Sao Paulo 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 2 0 0 0 2
Center for Individualized Medicine,Mayo Clinic 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Genetic Diagnostic Laboratory,University of Szeged 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 2 0 0 0 0 0 2
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 0 1 1 0 0 0 2
Pediatric Genomics Discovery Program,Yale University 1 1 0 0 0 0 2
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 1 0 0 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 2 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 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 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 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 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 1
StellarGene Technologies Pvt. Ltd. 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 0 1
Neurology,Jichi Medical University 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 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

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