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:
ClinVar version:

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
9 6 86 20 20 7 146

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TNXB 8 5 74 12 15 7 120
LOC106780803, TNXB 1 1 12 8 4 0 25
CYP21A2, TNXB 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 0 0 19 18 11 0 48
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 18 1 0 0 19
MGZ Medical Genetics Center 0 1 12 0 0 0 13
Baylor Genetics 0 0 10 0 0 0 10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 8 0 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
GenomeConnect, ClinGen 0 0 0 0 0 7 7
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
Mendelics 0 0 0 1 2 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Prenatal Diagnosis Center, Inner Mongolia Medical University 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 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 Leipzig Medical Center 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 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
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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