ClinVar Miner

Variants studied for Ataxia-telangiectasia syndrome

Coded as:
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Gene type:
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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
1928 606 6564 3765 241 11 12597

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 1196 361 4048 2396 144 2 7807
ATM, C11orf65 714 239 2498 1369 96 9 4747
ATM, C11orf65, LOC128772356, LOC129390354 6 3 3 0 0 0 12
ATM, C11orf65, LOC129390354 4 3 3 0 0 0 10
ATM, LOC130006700 0 0 5 0 1 0 6
ATM, C11orf65, LOC128772356, LOC129390352, LOC129390353, LOC129390354 1 0 2 0 0 0 3
ATM, LOC128772356, LOC129390352, LOC129390353 0 0 2 0 0 0 2
BRAF 2 0 0 0 0 0 2
AASDHPPT, ACAT1, ALG9, ALKBH8, AMOTL1, ANGPTL5, ANKRD49, ARHGAP20, ARHGAP42, ATM, BIRC2, BIRC3, BTG4, C11orf52, C11orf65, C11orf87, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CCDC82, CEP126, CEP57, CFAP300, CFAP68, CNTN5, CRYAB, CUL5, CWC15, CWF19L2, DCUN1D5, DDI1, DDX10, DIXDC1, DLAT, DYNC2H1, ELMOD1, ENDOD1, EXPH5, FAM76B, FDX1, FDXACB1, FUT4, GRIA4, GUCY1A2, HOATZ, HSPB2, JRKL, KBTBD3, KDM4D, KDM4E, LAYN, LOC100128088, MAML2, MIR34B, MIR34BHG, MIR34C, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MRE11, MSANTD4, MTMR2, NKAPD1, NPAT, PDGFD, PGR, PIH1D2, PIWIL4, POGLUT3, POU2AF1, POU2AF2, POU2AF3, PPP2R1B, RAB39A, RDX, SDHD, SESN3, SIK2, SLC35F2, SLN, SRSF8, TIMM8B, TMEM123, TMEM133, TRPC6, YAP1, ZC3H12C 1 0 0 0 0 0 1
ACAT1, ATM, C11orf65, EXPH5, NPAT, POGLUT3 0 0 1 0 0 0 1
ACAT1, ATM, NPAT 0 0 1 0 0 0 1
ATM, C11orf65, LOC128772356, LOC129390352, LOC129390353, LOC129390354, LOC130006700, LOC130006701, LOC130006702, LOC130006703 1 0 0 0 0 0 1
ATM, LOC128772354, LOC130006698, NPAT 1 0 0 0 0 0 1
ATM, LOC128772356 1 0 0 0 0 0 1
ATM, LOC129390352, LOC129390353 0 0 1 0 0 0 1
ATM, NPAT 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1879 320 6210 3672 171 0 12252
Natera, Inc. 103 14 1066 47 40 0 1270
Counsyl 42 218 163 51 8 0 482
Mendelics 34 11 166 59 50 0 320
Illumina Laboratory Services, Illumina 3 3 194 29 37 0 266
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 133 49 0 0 0 0 182
Revvity Omics, Revvity 53 13 30 0 0 0 96
Genome-Nilou Lab 2 2 19 6 18 0 47
Baylor Genetics 12 3 23 0 0 0 38
3billion 27 5 0 0 0 0 32
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 21 2 0 0 25
GeneReviews 13 0 0 0 0 8 21
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 13 0 19
Neuberg Centre For Genomic Medicine, NCGM 4 6 8 0 0 0 18
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 13 2 0 16
OMIM 13 0 1 0 0 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 8 1 0 13
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 9 3 0 0 0 0 12
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences 9 2 0 0 0 0 11
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 5 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 0 2 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 4 0 1 1 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 3 2 1 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 3 2 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 1 0 0 0 0 7
MGZ Medical Genetics Center 4 1 1 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 2 0 0 6
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 5 1 0 0 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 3 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 5 0 0 0 0 0 5
DASA 4 1 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 2 0 0 0 0 4
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 2 1 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 1 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 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 Hospitals, Manipal Hospital 0 1 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 2
Pediatric Genomics Discovery Program, Yale University 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
HSP Biomedical Diagnostics Department, Hospital San Pedro 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 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
Pars Genome Lab 0 0 0 2 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 2
Suma Genomics 0 2 0 0 0 0 2
Research Unit of Clinical Neuroscience, Medical Research Center Oulu, University of Oulu 0 1 1 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Mayo Clinic 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 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
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Neurology, Jichi Medical University 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genetica Medica Policlinico Modena, Policlinico di Modena 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 1
COMBGENE, University of Calgary 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 0 0 0 1

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