ClinVar Miner

Variants studied for Autosomal recessive osteopetrosis 4

Coded as:
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 12 8 0 11 3 44

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
CLCN7 10 12 8 10 3 43
CLCN7, LOC130058166 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Genome-Nilou Lab 0 0 0 11 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 4 0 0 0 5
OMIM 4 0 0 0 0 4
GeneReviews 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Baylor Genetics 1 0 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 2
Hadassah Hebrew University Medical Center 0 2 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
Molecular Lab, Department of Haematology, Christian Medical College 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
3billion 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.