ClinVar Miner

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

Included ClinVar conditions (15):
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
697 492 3229 1005 188 3 5327

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATM 311 188 1358 455 62 0 2253
ATM, C11orf65 182 128 808 243 24 2 1319
NBN 83 66 483 149 27 1 773
BLM 74 94 440 114 31 0 704
DNMT3B 12 0 64 17 18 0 101
RAD50 6 7 36 12 11 0 71
NBN, OSGIN2 2 6 20 10 5 0 43
ZBTB24 6 0 14 4 9 0 33
HELLS 6 0 0 0 0 0 6
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
RNF168 3 0 0 0 0 0 3
TOP3A 3 0 0 0 0 0 3
MICAL1, ZBTB24 0 0 2 0 0 0 2
RAD50, TH2-LCR, TH2LCRR 0 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 559 136 2872 885 146 0 4598
Counsyl 50 354 260 83 20 0 767
Illumina Clinical Services Laboratory,Illumina 6 2 176 52 24 0 260
Mendelics 33 8 196 11 1 0 249
Fulgent Genetics 35 3 135 0 0 0 173
Integrated Genetics/Laboratory Corporation of America 60 30 0 0 0 0 90
GeneReviews 88 0 0 0 0 1 89
OMIM 66 0 1 0 0 0 67
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
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
Baylor Genetics 8 0 2 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
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
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
CSER_CC_NCGL; University of Washington Medical Center 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
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
Athena Diagnostics Inc 0 0 0 0 1 0 1
Center for Human Genetics, Inc 0 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
University of Washington Department of Laboratory Medicine,University of Washington 1 0 0 0 0 0 1

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