ClinVar Miner

Variants in gene TNXB

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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
72 92 2014 1440 193 37 3441

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cardiovascular phenotype 23 0 1498 1158 99 0 2778
not provided 15 26 678 473 177 0 1249
not specified 0 0 288 264 113 0 605
Ehlers-Danlos syndrome 0 8 107 31 48 0 194
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 3 44 64 12 9 2 133
TNXB-related disorder 5 3 29 76 6 0 118
Ehlers-Danlos syndrome due to tenascin-X deficiency 36 18 48 1 7 7 114
Vesicoureteral reflux 8 4 8 37 1 6 0 54
See cases 0 1 5 0 0 0 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 4 4
Inborn genetic diseases 1 0 3 0 0 0 4
Lung cancer 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Cyanosis; Myoclonus; Dyspnea; Neonatal breathing dysregulation; Abnormal pattern of respiration; Breathing dysregulation; Hypotonia 0 0 2 0 0 0 2
Ehlers-Danlos syndrome, type 3 0 1 1 0 0 1 2
Familial cancer of breast 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Dyskeratosis congenita, autosomal dominant 3 0 0 1 0 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Joint hypermobility 0 1 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
TNXB-related hypermobile Ehlers-Danlos syndrome 1 0 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 24 0 1501 1158 99 0 2782
GeneDx 1 14 514 172 104 0 805
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 8 285 254 45 0 611
Labcorp Genetics (formerly Invitae), Labcorp 4 6 4 239 149 0 402
Mayo Clinic Laboratories, Mayo Clinic 1 4 149 112 99 0 365
CeGaT Center for Human Genetics Tuebingen 7 2 116 130 9 0 264
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 7 107 31 48 0 193
PreventionGenetics, part of Exact Sciences 5 3 28 83 60 0 179
Fulgent Genetics, Fulgent Genetics 3 42 35 11 9 0 100
Breakthrough Genomics, Breakthrough Genomics 0 0 25 49 0 0 74
Revvity Omics, Revvity 2 6 28 0 0 0 36
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 26 26
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 15 6 0 23
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 19 0 0 0 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 16 1 1 0 18
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 16 2 0 18
MGZ Medical Genetics Center 0 1 11 0 0 0 12
Baylor Genetics 0 0 11 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 10 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 11 11
Myriad Genetics, Inc. 7 0 0 0 0 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 6 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 4 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 4 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 1 0 3 1 0 6
OMIM 6 0 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 3 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 0 0 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 5 0 0 0 5
Eurofins Ntd Llc (ga) 0 0 4 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 1 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 2 0 4
3billion 1 1 0 1 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Illumina Laboratory Services, Illumina 0 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 1 1 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Prenatal Diagnosis Center, Inner Mongolia Medical University 0 2 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

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