ClinVar Miner

Variants studied for Ataxia-telangiectasia syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
2291 773 7421 4215 244 12 14280

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATM 1421 462 4589 2663 147 2 8853
ATM, C11orf65 849 305 2812 1552 96 10 5379
ATM, C11orf65, LOC128772356, LOC129390354 7 3 3 0 0 0 13
ATM, C11orf65, LOC129390354 4 3 3 0 0 0 10
ATM, LOC130006700 0 0 6 0 1 0 7
ATM, C11orf65, LOC128772356, LOC129390352, LOC129390353, LOC129390354 1 0 2 0 0 0 3
ACAT1, ATM, NPAT 1 0 1 0 0 0 2
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, 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, CUL5, NPAT, RAB39A 1 0 0 0 0 0 1
ATM, C11orf65, LOC128772356, LOC129390352, LOC129390353, LOC129390354, LOC130006700, LOC130006701, LOC130006702, LOC130006703 1 0 0 0 0 0 1
ATM, C11orf65, POGLUT3 0 0 1 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: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2204 356 6969 4117 176 0 13822
Natera, Inc. 171 144 1234 48 40 0 1637
Counsyl 42 218 163 51 8 0 482
Mendelics 34 12 160 63 49 0 318
Illumina Laboratory Services, Illumina 6 3 175 28 35 0 247
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 175 70 0 0 0 0 245
Molecular Pathology, Peter Maccallum Cancer Centre 45 7 72 8 0 0 132
Revvity Omics, Revvity 59 13 39 0 0 0 111
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 0 55 2 0 0 63
3billion 39 9 10 0 0 0 58
Genome-Nilou Lab 2 2 19 6 18 0 47
Baylor Genetics 12 3 23 0 0 0 38
Neuberg Centre For Genomic Medicine, NCGM 5 14 14 0 0 0 33
GeneReviews 13 0 0 0 0 8 21
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 13 0 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 13 2 0 16
OMIM 14 0 1 0 0 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 5 1 1 1 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 8 1 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 0 2 0 0 0 13
Institute of Human Genetics Munich, TUM University Hospital 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 8 1 2 0 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 3 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 5 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 3 2 0 8
Variantyx, Inc. 8 0 0 0 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 1 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 2 2 1 0 6
Dasa 5 1 0 0 0 0 6
MGZ Medical Genetics Center 4 1 1 0 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
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 2 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
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 4 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 0 1 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 2 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 3 0 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Center for Individualized Medicine, Mayo Clinic 1 1 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 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
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 1 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 1 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 2 0 0 0 0 0 2
Manipal Hospitals, Manipal Hospital 0 1 1 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 2 0 0 0 0 0 2
Next Generation Genetic Polyclinic 2 0 0 0 0 0 2
Pars Genome Lab 0 0 0 2 0 0 2
Pediatric Genomics Discovery Program, Yale University 1 1 0 0 0 0 2
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu 0 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 2
Suma Genomics 0 2 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
COMBGENE, University of Calgary 1 0 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 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
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 0 1
Department of Paediatrics, Damascus University 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Myriad Genetics, Inc. 0 0 1 0 0 0 1
Neurology, Jichi Medical University 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1

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