ClinVar Miner

Variants studied for distal arthrogryposis type 5D

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 total
35 23 21 1 4 78

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ECEL1 35 23 21 1 4 78

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 10 0 0 0 0 10
Revvity Omics, Revvity 0 0 9 0 0 9
University of Washington Center for Mendelian Genomics, University of Washington 7 0 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 2 2 0 0 7
Genetic Services Laboratory, University of Chicago 4 2 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 4 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 2 0 0 5
3billion, Medical Genetics 3 0 2 0 0 5
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 2 2 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
Suma Genomics 0 2 2 0 0 4
Baylor Genetics 1 0 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 2
Mendelics 2 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
DASA 1 0 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 1

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