ClinVar Miner

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

Included ClinVar conditions (16):
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
1029 581 4872 1297 298 4 7650

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATM 491 223 2007 544 93 0 3169
ATM, C11orf65 281 155 1220 298 64 2 1918
NBN 119 80 706 184 31 1 1070
BLM 87 104 687 194 46 0 1047
DNMT3B 14 2 132 37 26 0 197
RAD50 6 8 37 15 12 0 76
ZBTB24 7 0 33 19 11 0 70
NBN, OSGIN2 2 6 38 5 13 0 64
HELLS 6 0 1 0 0 0 7
RAD50, TH2LCRR 1 0 3 1 1 0 6
CDCA7 4 0 0 0 0 0 4
GINS1 4 2 0 0 0 0 4
MICAL1, ZBTB24 0 0 3 0 1 0 4
RNF168 3 0 0 0 0 0 3
TOP3A 3 0 0 0 0 0 3
RAD50, TH2-LCR, TH2LCRR 0 1 1 0 0 0 2
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
BLM, FES, FURIN, HDDC3, MAN2A2, PRC1, RCCD1, UNC45A 0 0 1 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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 903 223 4348 1128 193 0 6795
Counsyl 51 355 260 83 20 0 769
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 60 30 0 0 0 0 90
OMIM 66 0 1 0 0 0 67
GeneReviews 56 0 0 0 0 1 57
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 1 4 4 25 0 37
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
Baylor Genetics 15 2 2 0 0 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 5 10 1 0 16
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 4 6 4 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 9 0 0 0 11
Institute of Human Genetics,Klinikum rechts der Isar 7 3 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 8 0 0 0 0 0 8
Pathway Genomics 3 0 1 2 0 0 6
Natera Inc 0 0 1 3 2 0 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 3 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 2 1 0 1 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 0 0 0 3
Mayo Clinic Genetic Testing 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Institute Rare Disease Group,Broad Institute 1 0 1 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
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
Athena Diagnostics Inc 0 0 0 0 1 0 1
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 0 0 0 0 1
Institute of Human Genetics,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
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

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