ClinVar Miner

Variants in gene combination RTEL1, RTEL1-TNFRSF6B

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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
166 211 2293 2171 164 12 4685

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 121 77 1276 1788 92 0 3336
Inborn genetic diseases 0 1 1304 887 0 0 2192
Dyskeratosis congenita 8 57 389 114 29 0 575
not provided 10 26 269 144 108 7 526
Dyskeratosis congenita, autosomal recessive 5 23 93 73 7 22 1 204
not specified 0 0 50 46 46 0 137
RTEL1-related disorder 1 10 55 60 5 1 132
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 13 5 33 1 22 2 75
Dyskeratosis congenita, autosomal dominant 1 0 0 9 17 1 0 27
Pulmonary fibrosis 6 13 3 0 0 0 22
Interstitial lung disease 2 9 2 0 0 0 0 11
Telomere syndrome 3 0 0 0 0 0 3
Dyskeratosis congenita, X-linked 2 0 0 0 0 0 2
Dyskeratosis congenita, autosomal dominant 4 2 0 0 0 0 0 2
Dyskeratosis congenita, autosomal recessive 1 0 1 1 0 0 0 2
Microcephaly 0 0 2 0 0 0 2
See cases 2 0 0 0 0 0 2
Abnormality of blood and blood-forming tissues 1 0 0 0 0 0 1
Action myoclonus-renal failure syndrome 0 1 0 0 0 0 1
Acute myeloid leukemia 1 0 0 0 0 0 1
Adams-Oliver syndrome 3 1 0 0 0 0 0 1
Combined oxidative phosphorylation defect type 24 0 1 0 0 0 0 1
Developmental disorder 0 0 0 1 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Immunodeficiency 0 0 1 0 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 120 57 1247 1787 92 0 3303
Ambry Genetics 0 1 1304 887 0 0 2192
Natera, Inc. 4 49 353 83 29 0 518
GeneDx 6 14 183 47 92 0 342
Sema4, Sema4 0 0 71 62 3 0 136
PreventionGenetics, part of Exact Sciences 1 10 55 60 5 0 131
Fulgent Genetics, Fulgent Genetics 4 25 93 3 0 0 125
Breakthrough Genomics, Breakthrough Genomics 0 0 14 37 73 0 124
Mayo Clinic Laboratories, Mayo Clinic 4 4 52 16 31 0 107
CeGaT Center for Human Genetics Tuebingen 3 2 35 61 5 0 106
Baylor Genetics 8 68 13 0 0 0 89
Genetic Services Laboratory, University of Chicago 4 2 33 30 8 0 77
Counsyl 1 30 39 5 1 0 76
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 22 31 0 57
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 6 17 10 8 0 45
Johns Hopkins Genomics, Johns Hopkins University 4 0 19 1 0 0 24
Genome-Nilou Lab 0 0 0 0 21 0 21
Revvity Omics, Revvity 1 5 15 0 0 0 21
OMIM 20 0 0 0 0 0 20
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 8 9 0 19
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center 6 12 0 0 0 0 18
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 3 2 7 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 1 11 0 14
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 14 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 9 0 1 0 12
Neuberg Centre For Genomic Medicine, NCGM 1 1 10 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 5 1 0 0 12
3billion 1 4 6 0 0 0 11
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 7 0 10
GenomeConnect, ClinGen 0 0 0 0 0 9 9
University of Washington Center for Mendelian Genomics, University of Washington 9 0 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 6 0 1 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 1 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 4 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 6 0 0 6
Mendelics 0 1 4 0 1 0 6
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 3 0 0 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 1 0 0 0 0 3
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 0 3 0 0 0 3
Godley laboratory, The University of Chicago 1 0 2 0 0 0 3
New York Genome Center 1 1 1 0 0 0 3
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine 3 0 0 0 0 0 3
Blueprint Genetics 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 2 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 2 0 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 1 0 2
Myriad Genetics, Inc. 2 0 0 0 0 0 2
Next Generation Genetic Polyclinic 0 1 1 0 0 0 2
Pediatric Department 2 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 1 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1

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