ClinVar Miner

Variants studied for DNA repair defect other than combined T-cell and B-cell immunodeficiencies

Included ClinVar conditions (17):
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
1539 709 6748 2066 314 5 10830

Gene and significance breakdown #

Total genes and gene combinations: 24
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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
BLM 150 121 1072 346 49 0 1638
NBN 174 105 963 303 32 2 1518
DNMT3B 18 4 187 53 26 0 270
ZBTB24 9 1 67 26 12 0 114
RAD50 7 9 38 15 12 0 79
NBN, OSGIN2 2 6 41 6 13 0 68
HELLS 6 0 4 0 1 0 11
RNF168 4 0 3 0 3 0 10
MICAL1, ZBTB24 0 0 8 0 1 0 9
GINS1 5 2 2 0 0 0 7
RAD50, TH2LCRR 1 0 3 1 1 0 6
TOP3A 4 0 1 0 0 0 5
CDCA7 4 0 0 0 0 0 4
BLM, FES, FURIN, HDDC3, MAN2A2, PRC1, RCCD1, UNC45A 0 0 2 0 0 0 2
RAD50, TH2-LCR, TH2LCRR 0 1 1 0 0 0 2
AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS7, ADAMTSL3, ADPGK, AEN, AGBL1, AKAP13, ALDH1A2, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APH1B, AQP9, AQR, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARPP19, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf39, C15orf40, C15orf48, C15orf61, C15orf62, C15orf65, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CDIN1, CELF6, CEMIP, CEP152, CFAP161, CGNL1, CHAC1, CHP1, CHRM5, CHRNA3, CHRNA5, CHRNB4, CHST14, CIAO2A, CIB1, CIB2, CILP, CKMT1A, CKMT1B, CLK3, CLN6, CLPX, COMMD4, COPS2, CORO2B, COX5A, CPEB1, CPLX3, CRABP1, CRTC3, CSK, CSNK1G1, CSPG4, CT62, CTDSPL2, CTSH, CTXN2, CYP11A1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DISP2, DLL4, DMXL2, DNAAF4, DNAJA4, DNAJC17, DPH6, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF2AK4, EIF3J, ELL3, EMC4, EMC7, EPB42, ETFA, EXD1, FAH, FAM214A, FAM219B, FAM227B, FAM81A, FAM98B, FANCI, FBN1, FBXL22, FBXO22, FEM1B, FGF7, FOXB1, FRMD5, FSD2, FSIP1, GABPB1, GALK2, GANC, GATM, GCHFR, GCNT3, GDPGP1, GJD2, GLCE, GLDN, GNB5, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA8A, GOLGA8B, GOLM2, GPR176, GRAMD2A, GREM1, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HDC, HERC1, HEXA, HMG20A, HOMER2, HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IL16, IMP3, INO80, INSYN1, INTS14, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, IVD, JMJD7, KATNBL1, KBTBD13, KIF23, KIF7, KLHL25, KNL1, KNSTRN, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINC02694, LINC02915, LINGO1, LIPC, LMAN1L, LOC100128979, LOXL1, LPCAT4, LRRC49, LRRC57, LTK, LYSMD2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPK6, MAPKBP1, MEGF11, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MFGE8, MGA, MINAR1, MINDY2, MIR184, MIR9-3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NMB, NOP10, NOX5, NPTN, NR2E3, NRG4, NTRK3, NUSAP1, NUTM1, OAZ2, ODF3L1, OIP5, ONECUT1, PAK6, PAQR5, PARP16, PARP6, PATL2, PCLAF, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PHGR1, PIAS1, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, PPCDC, PPIB, PPIP5K1, PPP1R14D, PRTG, PSMA4, PSTPIP1, PTPN9, PYGO1, RAB11A, RAB27A, RAB8B, RAD51, RAMAC, RASGRF1, RASGRP1, RASL12, RBPMS2, RCN2, REC114, RFX7, RHCG, RHOV, RLBP1, RMDN3, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RPUSD2, RSL24D1, RTF1, RYR3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SCG5, SEC11A, SECISBP2L, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNUPN, SNX1, SNX22, SNX33, SORD, SPATA5L1, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, STARD5, STARD9, STOML1, STRA6, STRC, TBC1D21, TBC1D2B, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, THBS1, THSD4, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM6SF1, TMC3, TMCO5A, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM7, TSPAN3, TTBK2, TUBGCP4, TYRO3, UACA, UBAP1L, UBE2Q2, UBL7, UBR1, ULK3, UNC13C, USP3, USP50, USP8, VPS13C, VPS18, VPS39, WDR61, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH 0 0 1 0 0 0 1
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
ASXL1, C20orf203, COMMD7, DNMT3B, KIF3B, NOL4L, POFUT1 0 0 1 0 0 0 1
ATM, NPAT 1 0 0 0 0 0 1
DECR1, NBN 0 0 1 0 0 0 1
MSH2 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1412 334 6149 1892 203 0 9990
Counsyl 50 355 260 83 20 0 768
Natera, Inc. 68 10 522 56 44 0 700
Illumina Clinical Services Laboratory,Illumina 6 2 389 52 99 0 548
Mendelics 44 20 279 90 41 0 474
Fulgent Genetics,Fulgent Genetics 35 3 135 0 0 0 173
Integrated Genetics/Laboratory Corporation of America 104 46 0 0 0 0 150
Baylor Genetics 24 4 47 0 0 0 75
OMIM 67 0 1 0 0 0 68
GeneReviews 55 0 0 0 0 1 56
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 0 6 4 16 0 29
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 9 13 0 23
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 2 14 4 0 20
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 17 0 0 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 5 10 1 0 16
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 3 1 0 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 4 6 4 0 14
Institute of Human Genetics, Klinikum rechts der Isar 7 3 0 0 0 0 10
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 5 4 0 0 10
Genetic Services Laboratory, University of Chicago 8 0 0 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 1 0 0 0 0 6
Pathway Genomics 3 0 1 2 0 0 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 3 0 0 0 0 5
Nilou-Genome Lab 0 0 2 1 2 0 5
Centogene AG - the Rare Disease Company 1 3 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 2 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 1 0 1 0 4
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 2 1 0 0 0 4
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 3 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 1 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 3
Innovations Lab, Hyderabad,Tata Consultancy Services Ltd 3 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Center for Individualized Medicine,Mayo Clinic 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 2
Center for Medical Genetics Ghent,University of Ghent 2 0 0 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 1 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Pediatric Genomics Discovery Program,Yale University 1 1 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 0 1 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 0 2
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 1 0 0 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
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 2 0 0 0 0 0 2
Myriad Women's Health, Inc. 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
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Miami Human Genetics,University of Miami Miller School of Medicine 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 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
Greehey Children's Cancer Research Institute,UT Health San Antonio 1 0 0 0 0 0 1

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