ClinVar Miner

Variants studied for arthrogryposis-renal dysfunction-cholestasis syndrome

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 association total
29 11 45 10 14 1 110

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 8 14 1 87
VIPAS39 11 4 4 2 0 0 21
FBN1 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Illumina Laboratory Services, Illumina 1 0 36 8 14 0 59
OMIM 16 0 0 0 0 0 16
Baylor Genetics 0 0 6 0 0 0 6
Mendelics 2 0 0 0 1 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 1 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 0 0 0 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
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 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
Revvity Omics, Revvity 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 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
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1

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