ClinVar Miner

Variants studied for arthrogryposis, distal, with impaired proprioception and touch

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 total
23 24 27 5 25 102

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 total
PIEZO2 23 22 26 5 25 99
LOC126862696, PIEZO2 0 1 0 0 0 1
MIR6788, PIEZO2 0 1 0 0 0 1
STK11 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 24 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 5 1 0 9
OMIM 8 0 0 0 0 8
Illumina Laboratory Services, Illumina 4 0 2 0 0 6
Baylor Genetics 1 1 3 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 1 4 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 4 1 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 5
3billion 3 2 0 0 0 5
Mendelics 2 0 0 0 1 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 2 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 0 2 0 0 2
New York Genome Center 0 1 1 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Department of Pediatrics, Uniklinik RWTH Aachen 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 1

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