ClinVar Miner

Variants studied for autosomal recessive osteopetrosis 4

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
10 13 11 1 11 3 49

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CLCN7 10 13 11 0 10 3 47
CLCN7, LOC130058166 0 0 0 1 1 0 2

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 0 0 0 11 0 11
OMIM 4 0 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 3 1 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 0 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Baylor Genetics 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 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 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Molecular Lab, Department of Haematology, Christian Medical College 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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