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
620 352 2665 280 69 1 3835

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATM 385 203 1668 194 39 0 2393
ATM, C11orf65 235 149 997 86 30 1 1442

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 564 127 2485 147 3 0 3326
Counsyl 42 218 163 51 8 0 482
Mendelics 32 13 194 56 39 0 334
Illumina Clinical Services Laboratory,Illumina 1 2 80 26 6 0 115
Integrated Genetics/Laboratory Corporation of America 47 16 0 0 0 0 63
GeneReviews 42 0 0 0 0 0 42
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
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
Baylor Genetics 7 0 1 0 0 0 8
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
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
Athena Diagnostics Inc 0 0 0 0 1 0 1
Center for Human Genetics, Inc 0 1 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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