ClinVar Miner

Variants studied for Arthrogryposis, renal dysfunction, and cholestasis 1

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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 association total
20 7 41 7 14 1 90

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 association total
VPS33B 17 7 40 7 14 1 86
FBN1 1 0 1 0 0 0 2
VIPAS39 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Illumina Laboratory Services, Illumina 1 0 36 7 14 0 58
OMIM 9 0 0 0 0 0 9
Baylor Genetics 0 0 3 0 0 0 3
Mendelics 2 0 0 0 1 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 0 3
3billion 2 1 0 0 0 0 3
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1 0 2
Ege University Pediatric Genetics, Ege University 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Research Center for Immunodeficiencies, Tehran University of Medical Sciences 0 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University 1 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 0 0 0 0 1

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