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
490 316 2161 698 86 1 3568

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 310 188 1355 455 62 0 2253
ATM, C11orf65 180 128 806 243 24 1 1315

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 443 93 2010 633 71 0 3250
Counsyl 42 218 163 51 8 0 482
Mendelics 26 5 126 6 1 0 164
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
Baylor Miraca Genetics Laboratories, 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
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
University of Washington Department of Laboratory Medicine,University of Washington 1 0 0 0 0 0 1

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