ClinVar Miner

Variants studied for Ehlers-Danlos syndrome due to tenascin-X deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
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
40 71 125 21 21 10 276

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TNXB 38 60 109 13 16 10 236
LOC106780803, TNXB 2 10 15 8 4 0 37
CYP21A2, TNXB 0 0 1 0 1 0 2
LOC126859654, TNXB 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 4 51 35 18 11 0 119
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 8 0 0 0 0 27
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 17 1 1 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 14 0 0 0 16
MGZ Medical Genetics Center 0 1 12 0 0 0 13
Baylor Genetics 0 0 10 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 10 10
Genome-Nilou Lab 0 0 0 0 9 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 8 0 0 0 9
Myriad Genetics, Inc. 7 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 3 0 0 0 6
OMIM 5 0 0 0 0 0 5
Illumina Laboratory Services, Illumina 0 0 4 0 0 0 4
Pediatric Services, National Institutes of Health, Clinical Center 0 0 4 0 0 0 4
3billion 1 1 0 1 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 0 3
Mendelics 0 0 0 1 2 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 2 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 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
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
Daryl Scott Lab, Baylor College of 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 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
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1

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