ClinVar Miner

Variants in gene TERT

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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 association not provided total
125 132 1769 1680 107 2 47 3475

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 77 46 1090 1253 48 0 1 2514
Dyskeratosis congenita 17 20 956 1011 16 0 0 2005
not provided 13 32 249 147 53 0 4 471
Dyskeratosis congenita, autosomal dominant 2 12 13 162 15 14 0 0 214
not specified 0 1 98 62 25 0 0 174
TERT-related disorder 2 1 57 80 0 0 0 140
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 17 25 45 11 37 0 1 131
Aplastic anemia 0 0 44 12 13 0 13 77
Pulmonary fibrosis 1 46 2 0 0 0 0 49
Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 0 1 30 2 0 0 0 33
Melanoma, cutaneous malignant, susceptibility to, 9 0 0 1 0 26 0 0 27
Acute myeloid leukemia 1 1 2 9 13 0 0 26
Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 0 1 15 7 2 0 0 25
Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2 3 0 20 0 0 0 1 24
Interstitial lung disease 2 4 1 3 2 2 1 6 17
Dyskeratosis congenita, autosomal dominant 1 1 0 0 0 0 0 12 13
Autosomal recessive dyskeratosis congenita 4 5 0 0 0 0 0 0 5
Telomere syndrome 5 0 0 0 0 0 0 5
Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 1 3 0 0 0 0 4
Hepatocellular carcinoma 2 0 2 0 0 0 0 4
Chronic osteomyelitis 0 0 0 0 0 2 0 2
Dyskeratosis congenita, autosomal recessive 1 0 0 0 0 0 0 2 2
Hereditary cancer-predisposing syndrome 1 0 1 0 0 0 0 2
Intellectual disability 0 0 2 0 0 0 0 2
Meningioma 0 1 1 0 0 0 0 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 2 2
Abnormal pulmonary interstitial morphology; Short telomere length 0 1 0 0 0 0 0 1
Breast carcinoma 0 0 0 1 0 0 0 1
Chronic obstructive pulmonary disease 0 0 1 0 0 0 0 1
Chronic obstructive pulmonary disease; Immunodeficiency; Chronic diarrhea; Decreased circulating immunoglobulin concentration 0 0 1 0 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 0 1 1
Combined pulmonary fibrosis-emphysema syndrome 0 0 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 18 0 1 0 0 0 0 0 1
DiGeorge syndrome 0 0 0 1 0 0 0 1
Dyskeratosis congenita, autosomal recessive 5 0 0 1 0 0 0 0 1
Dyskeratosis congenita; Diffuse interstitial pulmonary fibrosis 0 1 0 0 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 0 1
Gastric cancer 0 0 0 0 0 0 1 1
Hepatoblastoma 1 0 0 0 0 0 0 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 0 1
Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 4 1 0 0 0 0 0 0 1
Inherited Immunodeficiency Diseases 1 0 0 0 0 0 0 1
Leukemia, acute myeloid, susceptibility to 1 0 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 0 1 1
Lymphoma 0 0 0 0 0 0 1 1
Macrocytic anemia; Premature graying of hair; Abnormal pulmonary interstitial morphology; Short telomere length 0 1 0 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 1 1
Malignant tumor of breast 0 0 0 0 1 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 0 1
Myelodysplasia 0 1 0 0 0 0 0 1
Susceptibility to severe coronavirus disease (COVID-19) 0 1 0 0 0 0 0 1
TERT-associated disorder 0 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 80 46 1107 1259 48 0 0 2540
Ambry Genetics 14 17 939 1007 13 0 0 1990
GeneDx 10 14 194 46 43 0 0 307
PreventionGenetics, part of Exact Sciences 1 1 56 93 8 0 0 159
Genetic Services Laboratory, University of Chicago 5 12 70 43 8 0 0 138
Baylor Genetics 2 2 104 0 0 0 0 108
CeGaT Center for Human Genetics Tuebingen 0 3 16 78 5 0 0 102
Illumina Laboratory Services, Illumina 0 0 43 16 36 0 0 68
Mayo Clinic Laboratories, Mayo Clinic 2 7 35 8 12 0 0 64
Sema4, Sema4 0 0 24 30 6 0 0 60
Fulgent Genetics, Fulgent Genetics 0 2 44 7 2 0 0 55
Breakthrough Genomics, Breakthrough Genomics 0 0 6 21 24 0 0 51
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center 1 50 0 0 0 0 0 50
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 11 19 13 0 0 44
GeneReviews 3 0 0 0 0 0 31 34
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 9 27 0 0 30
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 9 7 11 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 20 2 0 0 0 25
OMIM 21 0 0 0 0 0 0 21
Johns Hopkins Genomics, Johns Hopkins University 1 6 9 4 0 0 0 20
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 18 1 0 0 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 1 9 2 0 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 2 3 6 0 0 13
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 11 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 7 3 0 0 11
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 3 5 0 2 0 0 0 10
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 2 1 7 0 0 10
Revvity Omics, Revvity 0 0 10 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 5 3 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 5 1 0 0 0 9
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 9 0 0 0 0 9
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 7 2 0 0 9
Mendelics 0 0 5 2 2 0 0 9
3billion 2 0 6 0 0 0 0 8
Eurofins Ntd Llc (ga) 0 0 3 1 4 0 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 5 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 3 1 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 1 0 6 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 2 0 0 0 5
Degerman lab, Umeå University 2 2 1 0 0 0 0 5
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine 5 0 0 0 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 4 0 0 0 0 4
Dasa 1 0 1 1 1 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Godley laboratory, The University of Chicago 1 3 0 0 0 0 0 4
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan 2 0 2 0 0 0 0 4
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 3 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 1 0 0 3
Stem Cell Engineering Center, Hunan Guangxiu Hospital 3 0 0 0 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 3 0 0 3
Blueprint Genetics 0 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 1 0 0 0 0 2
Department of Orthopeadics and Traumatology, Nanfang Hospital 0 0 0 0 0 2 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 0 2
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 2 0 0 0 0 0 0 2
Dr. Guy Rouleau's laboratory, McGill University 0 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Human Development and Health, University of Southampton 0 0 0 0 0 0 2 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 2 0 0 0 0 2
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 0 0 0 0 0 0 2 2
Variantyx, Inc. 0 2 0 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 1 0 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 1 1 0 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 1
Molecular Genetics, Sadra Medical Genetics Laboratory 1 0 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 1 0 0 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1

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