ClinVar Miner

Variants studied for Ataxia-telangiectasia syndrome

Coded as:
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
925 412 3721 842 157 1 5754

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATM 588 242 2291 544 93 0 3561
ATM, C11orf65 336 170 1429 298 64 1 2191
ACAT1, ATM, NPAT 0 0 1 0 0 0 1
ATM, NPAT 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 872 183 3473 747 96 0 5371
Counsyl 42 218 163 51 8 0 482
Mendelics 32 13 194 56 39 0 334
Illumina Clinical Services Laboratory,Illumina 1 2 195 29 37 0 264
Integrated Genetics/Laboratory Corporation of America 67 24 0 0 0 0 91
GeneReviews 42 0 0 0 0 0 42
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 1 3 2 22 0 31
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 8 13 0 22
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 2 14 2 0 18
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 5 9 1 0 15
OMIM 13 0 1 0 0 0 14
Baylor Genetics 12 1 1 0 0 0 14
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 4 5 2 0 11
Institute of Human Genetics,Klinikum rechts der Isar 7 3 0 0 0 0 10
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 3 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Center for Individualized Medicine,Mayo Clinic 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
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 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
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
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing 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
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 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

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